WorldWideScience

Sample records for adenomatous hyperplasia arising

  1. Pulmonary Atypical Adenomatous Hyperplasia And Bronchioloalveolar Carcinoma

    Institute of Scientific and Technical Information of China (English)

    MeilinXu; XiaYang; ZhiyaoZhang

    2004-01-01

    OBJECTIVE To study the relationship between atypical adenomatous hyperplasia (AAH) and bronchioloalveolar carcinoma (BAC). METHODS Morphometric, immunohistochemical and ultrastructural analyses were performed in 4 patients with low grade AAH, 5 with high grade AAH and 7 with BAC. RESULTS The mean nuclear areas of high grade AAH and BAC were greater than those of low grade AAH (P<0.05); p53 protein expression was negative in 4 cases of low grade AAH,while the positive rates in high grade AAH and BAC were 40% (2/5) and 57% (4/7), respectively. CONCLUSION The development of BAC is stepwise. AAH appears to be a lesion closely related with BAC, probably as its genuine precursor.

  2. Solitary Atypical Adenomatous Hyperplasia in a 12-Year-Old Girl.

    Science.gov (United States)

    Jin, Moran; Lee, Yang-Haeng; Kim, Bomi; Yoon, Young Chul; Wi, Jin Hong

    2016-04-01

    Atypical adenomatous hyperplasia is a premalignant lesion reflecting a focal proliferation of atypical cells. These lesions are usually observed as incidental findings in lungs that have been resected due to other conditions, such as lung cancer. We report the youngest case of atypical adenomatous hyperplasia on record in a 12-year-old girl. In this patient, the lesion was found in association with pneumothorax.

  3. Conjunctival lymphoma arising from reactive lymphoid hyperplasia

    Directory of Open Access Journals (Sweden)

    Fukuhara Junichi

    2012-09-01

    Full Text Available Abstract Extra nodal marginal zone B-cell lymphoma (EMZL of the conjunctiva typically arises in the marginal zone of mucosa-associated lymphoid tissue. The pathogenesis of conjunctival EMZL remains unknown. We describe an unusual case of EMZL arising from reactive lymphoid hyperplasia (RLH of the conjunctiva. A 35-year-old woman had fleshy salmon-pink conjunctival tumors in both eyes, oculus uterque (OU. Specimens from conjunctival tumors in the right eye, oculus dexter (OD, revealed a collection of small lymphoid cells in the stroma. Immunohistochemically, immunoglobulin (Ig light chain restriction was not detected. In contrast, diffuse atypical lymphoid cell infiltration was noted in the left eye, oculus sinister (OS, and positive for CD20, a marker for B cells OS. The tumors were histologically diagnosed as RLH OD, and EMZL OS. PCR analysis detected IgH gene rearrangement in the joining region (JH region OU. After 11 months, a re-biopsy specimen demonstrated EMZL based on compatible pathological and genetic findings OD, arising from RLH. This case suggests that even if the diagnosis of the conjunctival lymphoproliferative lesions is histologically benign, confirmation of the B-cell clonality by checking IgH gene rearrangement should be useful to predict the incidence of malignancy.

  4. Adenomatous hyperplasia of the mucous glands in captive Archey's frogs (Leiopelma archeyi).

    Science.gov (United States)

    Shaw, S D; Berger, L; Harvey, C; Alley, M R; Bishop, P J; Speare, R

    2017-05-01

    To describe the gross and light microscopic characteristics of skin lesions observed on the ventral skin of captive Archey's frogs (Leiopelma archeyi) between 2000 and 2012, and to investigate their occurrence, possible aetiology and association with survival. Postmortem skin samples were obtained for histological evaluation from 37 frogs, with and without skin lesions, that died while in captivity at Auckland Zoo between 2000 and 2012. Four frogs with skin lesions were biopsied under general anaesthesia and samples used for both light and transmission electron microscopy. The records of 94 frogs held at the University of Otago and Auckland Zoo between 2000-2012 were reviewed, which included some frogs recently collected from the wild. Information about the occurrence of skin lesions, and mortality associated with skin lesions was collated. Grossly the skin lesions varied in appearance; most were circular, pale grey papules, which measured from hyperplasia of the dermal mucous glands. The aetiology of this adenomatous hyperplasia is unknown, but factors associated with the captive environment are the most likely cause. This is the first description of adenomatous hyperplasia of the cutaneous mucous glands in amphibians.

  5. Tubercular thyroiditis with multinodular goitre with adenomatous hyperplasia: a rare coexistence.

    Science.gov (United States)

    Chaurasia, Jai Kumar; Garg, Cheena; Agarwal, Arjun; Naim, Mohammed

    2013-09-25

    A 32-year-old Indian woman presented with swelling in the anterior part of the neck for the last 3 years. Clinical and radiological examination and fine needle aspiration cytology suggested the diagnosis of multinodular goitre. A subtotal thyroidectomy was performed by the surgeon and the specimen was submitted for the final diagnosis. Histological examination of the specimen revealed multiple caseating tubercular granulomas coexistent with multinodular goitre and adenomatous hyperplasia. The sections demonstrated acid-fast tubercle bacteria, confirming the diagnosis of tubercular thyroiditis. This case emphasises that tubercular thyroiditis should always be considered in patients with thyroid swelling or nodule, in countries where the prevalence of tuberculosis is high.

  6. Filiform serrated adenomatous polyposis arising in a diverted rectum of an inflammatory bowel disease patient

    DEFF Research Database (Denmark)

    Klarskov, Louise; Mogensen, Anne Mellon; Jespersen, Niels

    2011-01-01

    during the adenoma carcinoma sequence included the acquisition of CK7 expression in the malignant portion. Gastric mucin may play a role in the initial step of the neoplastic evolution and CK7 may denote neoplastic progression. This case confirms the notion of a widely variegated morphology of precursor......Klarskov L, Mogensen AM, Jespersen N, Ingeholm P, Holck S. Filiform serrated adenomatous polyposis arising in a diverted rectum of an inflammatory bowel disease patient. APMIS 2011; 119: 393-8. A 54-year-old man, previously colectomized for inflammatory bowel disease, developed carcinoma...... of flat dysplasia. Although a combined gastric and intestinal (positivity for MUC5AC, MUC2, MUC6, CDX2) immunoprofile characterized the adenomatous component, a downregulation of the gastric mucin along with a loss of the serrated attribute accompanied the malignant transformation. An added dynamic shift...

  7. Biochemical and immunohistochemical estrogen and progesterone receptors in adenomatous hyperplasia and endometrial carcinoma: correlations with stage and other clinicopathologic features

    DEFF Research Database (Denmark)

    Nyholm, H C; Nielsen, A L; Lyndrup, J;

    1992-01-01

    OBJECTIVE: This study investigates clinicopathologic associations of estrogen and progesterone receptor content in endometrial carcinoma. STUDY DESIGN: One hundred fifty-two patients with endometrial cancer and 12 with adenomatous hyperplasia were included. Dextran-coated charcoal receptor assay...... of International Federation of Gynecology and Obstetrics grade. Age of patient, years since menopause, and previous estrogen treatment were not related to receptor content. In adenomatous hyperplasia high progesterone receptor levels were seen. CONCLUSION: The inverse correlation between clinical stage...... of endometrial carcinoma and content of estrogen and progesterone receptors may reflect tumor biologic behavior....

  8. DNA methylation changes in atypical adenomatous hyperplasia, adenocarcinoma in situ, and lung adenocarcinoma.

    Directory of Open Access Journals (Sweden)

    Suhaida A Selamat

    Full Text Available BACKGROUND: Aberrant DNA methylation is common in lung adenocarcinoma, but its timing in the phases of tumor development is largely unknown. Delineating when abnormal DNA methylation arises may provide insight into the natural history of lung adenocarcinoma and the role that DNA methylation alterations play in tumor formation. METHODOLOGY/PRINCIPAL FINDINGS: We used MethyLight, a sensitive real-time PCR-based quantitative method, to analyze DNA methylation levels at 15 CpG islands that are frequently methylated in lung adenocarcinoma and that we had flagged as potential markers for non-invasive detection. We also used two repeat probes as indicators of global DNA hypomethylation. We examined DNA methylation in 249 tissue samples from 93 subjects, spanning the putative spectrum of peripheral lung adenocarcinoma development: histologically normal adjacent non-tumor lung, atypical adenomatous hyperplasia (AAH, adenocarcinoma in situ (AIS, formerly known as bronchioloalveolar carcinoma, and invasive lung adenocarcinoma. Comparison of DNA methylation levels between the lesion types suggests that DNA hypermethylation of distinct loci occurs at different time points during the development of lung adenocarcinoma. DNA methylation at CDKN2A ex2 and PTPRN2 is already significantly elevated in AAH, while CpG islands at 2C35, EYA4, HOXA1, HOXA11, NEUROD1, NEUROD2 and TMEFF2 are significantly hypermethylated in AIS. In contrast, hypermethylation at CDH13, CDX2, OPCML, RASSF1, SFRP1 and TWIST1 and global DNA hypomethylation appear to be present predominantly in invasive cancer. CONCLUSIONS/SIGNIFICANCE: The gradual increase in DNA methylation seen for numerous loci in progressively more transformed lesions supports the model in which AAH and AIS are sequential stages in the development of lung adenocarcinoma. The demarcation of DNA methylation changes characteristic for AAH, AIS and adenocarcinoma begins to lay out a possible roadmap for aberrant DNA

  9. Adenomatous hyperplasia of the rete testis: A rare intrascrotal lesion managed with limited testicular excision

    Directory of Open Access Journals (Sweden)

    Francesco Catanzariti

    2016-10-01

    Full Text Available Introduction: Testicular cancer is one of the most frequent in young men and its incidence is increasing in recent years because of incidental finding during routine ultrasound exams. Adenomatous hyperplasia of the rete testis is one of the benign and rare pathological types incidentally detected and very few cases are described in the literature. Case report: A 40 years old man come to our attention for a balanoposthitis without testicular pain. During andrological examination we performed palpation of the testes and we noticed a palpable nodule of hard consistency in the left testicle. We then performed an ultrasound exam of the testis which highlighted the presence of an intra-didymus neoformation with diameters of 1.2 x 1.6 cm and with the presence of cysts inside. We also performed blood tests to check tumor markers alpha fetoprotein, beta hCG and LDH which resulted inside the normal range. We then conducted a chest and abdomen CT scan that showed no pathological elements. Therefore, as we suspected that this tumor was benign, we performed an enucleation of the neoplasm. The definitive histological examination revealed the presence of dilated ducts lined with epithelial cubic-columnar cells with clear cytoplasm rich in glycogen and the pathologist so concluded that the tumor could be classified as adenomatous hyperplasia of the rete testis. At three months of follow up, the patient doesn’t have any recurrent lesion to either testicles. Discussion: Adenomatous hyperplasia of the rete testis is a very rare intrascrotal lesion. This histological type is the most frequent between benign lesion of the ovary, but few works in literature reported this histological type in the male gonad and, in most of these works, authors described these lesion at epididymis. Conclusion: We believe that a conservative approach must be considered mandatory in case of testicular lesions 1.5 cm in diameter. A radical approach might have alterate fertility of the

  10. Histological study of PIVKA-II expression in hepatocellular carcinoma and adenomatous hyperplasia.

    Science.gov (United States)

    Miskad, U A; Yano, Y; Nakaji, M; Kishi, S; Itoh, H; Kim, S R; Ku, Y; Kuroda, Y; Hayashi, Y

    2001-12-01

    Although serum concentration of protein induced vitamin K absence or antagonist II (PIVKA-II) has been widely used for diagnosing hepatocellular carcinoma (HCC), little information is available concerning tissue PIVKA-II as an immunohistochemical marker for liver histology. In this study, we examined the expression of PIVKA-II in precancerous nodules (adenomatous hyperplasia) and various differentiation grades of HCC by immunohistochemical study using the monoclonal anti-PIVKA-II antibody (MU-3). We examined the relationship between tissue PIVKA-II staining and serum PIVKA-II level, tumor histology and tumor size. PIVKA-II was mainly detected in the cytoplasm of the HCC cells. The positive rates of PIVKA-II were as follows: adenomatous hyperplasia (AH), 0% (0/9); well-differentiated HCC, 65% (15/23); moderately differentiated HCC, 85% (22/26); poorly differentiated HCC, 54% (7/13). The expression of tissue PIVKA-II staining in moderately differentiated HCC was significantly higher than in well- or poorly differentiated HCC, whereas the serum PIVKA-II level in poorly differentiated HCC was higher than well- or moderately differentiated HCC. There was no relationship between the expression of PIVKA-II in cancer tissues and serum levels of PIVKA-II. Immunohistochemical studies revealed that PIVKA-II was expressed even in small-sized or well-differentiated HCC cells, but expression was not detected in AH. It was concluded that PIVKA-II is a useful immunohistochemical marker, even in small-sized or well-differentiated HCC.

  11. Concomitant hepatocellular adenoma and adenomatous hyperplasia in a patient without cirrhosis

    Institute of Scientific and Technical Information of China (English)

    Chuan-Yuan Hsu; Cheng-Hsin Chu; Shee-Chan Lin; Fee-Shih Yang; Tsen-Long Yang; Kuo-Ming Chang

    2003-01-01

    AIM: Hepatocelluar adenoma (HCA) and adenomatous hyperplasia (AH) are rare benign tumors of the liver. HCA is usually found in women who use oral contraceptives. AH usually occurs in patients with liver cirrhosis. Both tumors have potential for malignant transformation.METHODS: We described a male adult with chronic liver disease (CLD) who had been known to be a hepatitis B carrier (HBV) for years. He was found to have a spaceoccupying lesion with a suspicion of hepatocellular carcinoma (HCC) by abdominal ultrasonography. His α-fetoprotein (AFP)was normal. Angiographic findings were consistent with the diagnosis of HCC, he wished to avoid an operation, was treated with transcatheter hepatic arterial embolization.RESULTS: He subsequently consented to surgery, and a right lobectomy was performed. The liver pathology disclosed HCA with nuclear dysplasia and post-embolization effects.In addition, there were multiple small foci of AH with nuclear dysplasia in the resected liver. Although he had some focal areas of cirrhosis-like change or post-embolization effect,the AH was associated only with normal liver tissue.CONCLUSION: This case confirms that HCA and AH may resemble HCC on imaging studies, and that AH may occur in CLD in the absence of cirrhotic change.

  12. Adenomatous hyperplasia of the thyroid gland in beluga whales (Delphinapterus leucas) from the St. Lawrence Estuary and Hudson Bay, Quebec, Canada.

    Science.gov (United States)

    Mikaelian, I; Labelle, P; Kopal, M; De Guise, S; Martineau, D

    2003-11-01

    We evaluated thyroid gland lesions in beluga whales (Delphinapterus leucas) from the St. Lawrence Estuary (n = 16) and Hudson Bay (n = 14). Follicular cysts and nodules of adenomatous hyperplasia of the thyroid gland were found in eight and nine adults from the St. Lawrence Estuary (n = 10), respectively, and in four and six adults from Hudson Bay (n = 14), respectively. The total volume of the lesions of thyroid adenomatous hyperplasia was positively correlated with age in both populations. Comparison between populations could not be performed because of differences in age structures of sample groups. Beluga whales from both populations have unique thyroid lesions among marine mammals.

  13. The Value of CT Attenuation in Distinguishing Atypical Adenomatous Hyperplasia from Adenocarcinoma in Situ

    Directory of Open Access Journals (Sweden)

    Binghu JIANG

    2013-11-01

    Full Text Available Background and objective: Advances in high-resolution computed tomography (CT scanning have increased the detection of small ground-glass opacity (GGO nodules and also allowed such images to be investigated in detail. However, it is difficult to differentiate atypical adenomatous hyperplasia (AAH from adenocarcinoma in situ (AIS with CT, even at follow-up, because they share many similar CT manifestations. While AAH is thought to be a precursor or even an early-stage lesion of lung adenocarcinoma, and the stepwise progression from AAH to AIS is thought to be reasonable. Therefore, the hypothesis that the attenuation of GGO is increased gradually from AAH to AIS is proposed. The aim of this study was to distinguish AAH from AIS with CT attenuation in patients with pure GGO nodules. 
Methods: Between January 2010 and December 2012, the CT findings in terms of the greatest diameter and mean CT attenuation (HU were reviewed and correlated with pathology in 56 patients with AAH (n=21 and non-mucinous AIS (n=38 by two independent observers. All the 59 lesions were pure GGO nodules with size of 2 cm or smaller. To determine variability of measuring CT attenuation, we calculated the 95% confidence interval (CI for the limits of agreement by using Bland-Altman analysis. Student t test was used to compare AAH and AIS in terms of diameter and CT attenuation. And receiver operating characteristic (ROC curve was used to determine the optimal cut-off value of mean CT attenuation for differentiating AAH from AIS and obtain the diagnostic value. Two-tailed P value of less than 0.05 was considered to be significant. 
Results: For the manually measured CT attenuation, the 95%CI for the limits of agreement was -40 HU, 50 HU for inter-observer variability. Although there was significant difference in nodule diameter between AAH and AIS (P=0.046, the overlap was considerable. The mean CT attenuation was (-718±53 HU (95%CI: -822, -604 for AAH, which was

  14. The Value of CT Attenuation in Distinguishing Atypical Adenomatous Hyperplasia from Adenocarcinoma in Situ

    Institute of Scientific and Technical Information of China (English)

    Binghu JIANG; Jichen WANG; Peng JIA; Meizhao LE

    2013-01-01

    Background and objective:Advances in high-resolution computed tomography (CT) scanning have increased the detection of small ground-glass opacity (GGO) nodules and also allowed such images to be investigated in detail. However, it is diffcult to differentiate atypical adenomatous hyperplasia (AAH) from adenocarcinoma in situ (AIS) with CT, even at follow-up, because they share many similar CT manifestations. While AAH is thought to be a precursor or even an early-stage lesion of lung adenocarcinoma, and the stepwise progression from AAH to AIS is thought to be reasonable. hTerefore, the hypothesis that the attenuation of GGO is increased gradually from AAH to AIS is proposed. hTe aim of this study was to distinguish AAH from AIS with CT attenuation in patients with pure GGO nodules. Methods:Between January 2010 and December 2012, the CT ifndings in terms of the greatest diameter and mean CT attenuation (HU) were reviewed and correlated with pathology in 56 patients with AAH (n=21) and non-mucinous AIS (n=38) by two independent observers. All the 59 lesions were pure GGO nodules with size of 2 cm or smaller. To determine variability of measuring CT attenuation, we calculated the 95%conifdence interval (CI) for the limits of agreement by using Bland-Altman analysis. Student t test was used to compare AAH and AIS in terms of diameter and CT attenuation. And receiver operating characteristic (ROC) curve was used to determine the optimal cut-off value of mean CT attenuation for differentiating AAH from AIS and obtain the diagnostic value. Two-tailed P value of less than 0.05 was considered to be signiifcant. Results:For the manually measured CT attenuation, the 95%CI for the limits of agreement was-40 HU, 50 HU for inter-observer variability. Although there was significant difference in nodule diameter between AAH and AIS (P=0.046), the overlap was considerable. hTe mean CT attenuation was (-718±53) HU (95%CI:-822,-604) for AAH, which was signiifcantly smaller than

  15. A case of hepatocellular carcinoma arising within large focal nodular hyperplasia with review of the literature

    Institute of Scientific and Technical Information of China (English)

    Theodoros Petsas; Athanassios Tsamandas; Irene Tsota; Dionisios Karavias; Chrysoula Karatza; Vassilios Vassiliou; Dimitrios Kardamakis

    2006-01-01

    Focal nodular hyperplasia (FNH) is a relatively rare benign hepatic tumor, usually presenting as a solitary lesion; however, multiple localizations have also been described. The association of FNH with other hepatic lesions, such as adenomas and haemangiomas has been reported by various authors. We herein report a case of a hepatocellular carcinoma arising within a large focal nodular hyperplasia, in a young female patient.

  16. Nodular Hyperplasia Arising from the Lateral Aberrant Thyroid Tissue: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Jeong, Min Hye; Park, Jeong Seon; Lee, Young Jun [Dept. of Radiology, Hanyang University College of Medicine, Hanyang University Hospital, Seoul (Korea, Republic of)

    2012-06-15

    The presence of aberrant thyroid tissue in the lateral neck is very rare. In addition, nodular hyperplasia in ectopic thyroid has rarely been reported. Due to the unusual location, the presence of lateral aberrant thyroid tissue could be misdiagnosed as a lymphadenopathy, neurogenic tumor, etc. We report on a case of nodular hyperplasia arising from the right lateral aberrant thyroid tissue.

  17. Expression of alpha-Methylacyl-CoA racemase (P504S) in atypical adenomatous hyperplasia of the prostate.

    Science.gov (United States)

    Yang, Ximing J; Wu, Chin-Lee; Woda, Bruce A; Dresser, Karen; Tretiakova, Maria; Fanger, Gary R; Jiang, Zhong

    2002-07-01

    Atypical adenomatous hyperplasia (AAH) of the prostate, also known as adenosis, is characterized by a proliferation of prostatic glands with abnormal architectural patterns, but without significant cytologic atypia. In some cases it may be difficult to distinguish AAH from prostatic carcinoma. Additionally, it is not clear whether AAH is a precursor lesion of prostatic adenocarcinoma. P504S, a protein highly expressed in prostatic adenocarcinoma, has been recently shown to be a marker of prostate cancer. The goal of this study is to examine the expression of P504S in AAH by immunohistochemistry. A total of 80 prostate specimens, including 40 cases of AAH (prostatectomy N = 30, biopsy N = 6, transurethral resection N = 4), 20 cases of prostatic adenocarcinomas, and 20 cases of benign prostatic hyperplasia, were studied. Immunohistochemistry for a prostate cancer marker alpha-methylacyl-CoA racemase (P504S) and a basal cell-specific marker 34betaE12 was performed in all the cases. The 34betaE12 stain confirmed the presence of patchy basal cells in all 40 cases of AAH. P504S was undetectable in the majority of AAHs (33 of 40, 82.5%), focally expressed in four of 40 (10.0%), or diffusely positive only in three of 40 (7.5%) cases of AAH. Interestingly, two of seven P504S-positive AAHs were found adjacent to adenocarcinoma. In contrast, all benign prostatic hyperplasias (20 of 20, 100%) were negative for P504S, and all 20 cases of prostatic carcinomas (100%) showed a diffuse P504S staining pattern. These findings suggest that AAH is a heterogenous entity. The biologic significance of P504S expression in a small subset of AAH remains to be determined. Because most cases of AAH are negative for P504S, immunostaining of P504S is also of diagnostic value in distinguishing the majority of AAHs from prostatic adenocarcinoma.

  18. Endometrial cancer arising from atypical complex hyperplasia: The significance in an endometrial biopsy and a diagnostic challenge

    Science.gov (United States)

    Byun, Jung Mi; Jeong, Dae Hoon; Kim, Young Nam; Cho, En Bee; Cha, Ju Eun; Sung, Moon Su; Lee, Kyung Bok

    2015-01-01

    Objective We investigated the features of endometrial hyperplasia with concurrent endometrial cancer that had been diagnosed by endometrial sampling. Further, we attempted to identify an accurate differential diagnostic method. Methods We retrospectively studied 125 patients who underwent a diagnostic endometrial biopsy or were diagnosed after the surgical treatment of other gynecological lesions, such as leiomyoma or polyps. Patients were diagnosed between January 2005 and December 2013 at Busan Paik Hospital. Clinical and histopathological characteristics were compared in patients who had atypical endometrial hyperplasia with and without concurrent endometrial cancer. Results The patients were grouped based on the final pathology reports. One hundred seventeen patients were diagnosed with endometrial hyperplasia and eight patients were diagnosed with endometrioid adenocarcinoma arising from atypical hyperplasia. Of the 26 patients who had been diagnosed with atypical endometrial hyperplasia by office-based endometrial biopsy, eight (30.8%) were subsequently diagnosed with endometrial cancer after they had undergone hysterectomy. The patients with endometrial cancer arising from endometrial hyperplasia were younger (39.1 vs. 47.2 years, P=0.0104) and more obese (body mass index 26.1±9.6 vs. 23.8±2.8 kg/m2, P=0.3560) than the patients with endometrial hyperplasia. The correlation rate between the pathology of the endometrial samples and the final diagnosis of endometrial hyperplasia was 67.3%. Conclusion In patients with atypical endometrial hyperplasia, the detection of endometrial cancer before hysterectomy can decrease the risk of suboptimal treatment. The accuracy of endometrial sampling for the diagnosis of concurrent endometrial carcinoma was much lower than that for atypical endometrial hyperplasia. Therefore, concurrent endometrial carcinoma should be suspected and surgical intervention should be considered in young or obese patients who present with

  19. Hyperplasia

    Science.gov (United States)

    Hyperplasia is increased cell production in a normal tissue or organ. Hyperplasia may be a sign of abnormal or precancerous changes. This is called pathologic hyperplasia. It can also be due to the growth ...

  20. Cytogenetic findings in lung cancer that illuminate its biological history from adenomatous hyperplasia to bronchioalveolar carcinoma to adenocarcinoma: A case report.

    Science.gov (United States)

    Bettio, Daniela; Cariboni, Umberto; Venci, Anna; Valente, Marialuisa; Spaggiari, Paola; Alloisio, Marco

    2012-12-01

    The biological and chronological evolution of lung cancer remain to be fully elucidated. A multi-step carcinogenesis hypothesis suggests a progression from atypical adenomatous hyperplasia (AAH) through bronchioalveolar carcinoma (BAC) to invasive adenocarcinoma (AC), but to date this has not been formally demonstrated. We report a case of a patient diagnosed by computed tomography (CT) with lung cancer in the superior right lobe who also presented with a pure ground-glass opacity (GGO) in the inferior lobe, while the middle lobe appeared normal. Following pneumonectomy, cytogenetic analysis successfully performed on spontaneous metaphases obtained by the direct method from samples of the three lung lobes showed the presence of three clonal cell populations, each progressively having increased karyotype complexity. Fluorescence in situ hybridization (FISH), performed using ALK (2p23) break probe and ALK/EML4 t(2;2);inv(2) fusion probe, showed a normal pattern for all specimens. Histological evaluation confirmed the presence of AC in the superior right lobe and classified the GGO lesion as BAC and the normal tissue of the middle lobe as AAH. To the best of our knowledge, this is the first case in which the cytogenetic study of spontaneous metaphases showed a clear clonal relationship among AC, BAC and AAH present simultaneously in different lobes of the same lung. This case appears to indicate that the entire lung was somehow predisposed to a neoplastic transformation starting with a diffuse AAH characterized by high proliferative activity. Moreover, the 5q13 region involved in the translocation shared by BAC and AC contains at least 4 genes encoding important regulators of the cell cycle that may be considered new molecular markers of lung cancer.

  1. Epidermal growth factor receptor and alveolar epithelial atypical adenomatous hyperplasia%表皮生长因子受体与肺泡上皮不典型腺瘤样增生的关系

    Institute of Scientific and Technical Information of China (English)

    黄谦

    2012-01-01

    Lung cancer is a common malignant tumor and lung adenocarcinoma is the main type of it. Bronchioloalveolar lung carcinoma (BAC) is a special type of lung adenocarcinoma. Research indicates that alveolar epithelial atypical adenomatous hyperplasia (AAH) in BAC or adenocarcinoma may be a precancerous lesion, even in the early stage of cancer. Overexpression and/or mutatioin of epidermal growth factor receptor (EGFR) is closely related to the occurrence, development, invasion and metastasis of lung cancer, especially in non-small-cell lung cancer (NSCLC). But there are few studies reported about EGFR in the precancerous lesion of non-small-cell lung cancer.%肺癌是人类常见的恶性肿瘤,肺腺癌是其主要类型之一.细支气管肺泡癌(bronchioloalveolar lung carcinoma,BAC)是肺腺癌的一个特殊类型.肺泡上皮不典型腺瘤样增生(atypical adenomatous hyperplasia,AAH)可能是BAC或腺癌的癌前病变,甚至是其早期癌.表皮生长因子受体(epidermal growth factor receptor,EGFR)的过表达和(或)突变与肺癌尤其是非小细胞肺癌(non-small-cell lung cancer,NSCLC)的发生、发展、侵袭和转移等密切相关.

  2. Focal epithelial hyperplasia arising after delivery of metal-ceramic fixed dental prosthesis.

    Science.gov (United States)

    Park, Min-Woo; Cho, Young-Ah; Kim, Soung-Min; Myoung, Hoon; Lee, Jong-Ho; Lee, Suk-Keun

    2014-12-01

    Focal epithelial hyperplasia (FEH) is a human papillomavirus (HPV)-induced alteration of the oral mucosa that presents with a clinically distinct appearance. While other HPV-infected lesions such as squamous papilloma, verruca vulgaris, and condyloma acuminatum involve the skin, oral mucosa, and genital mucosa, FEH occurs only in the oral mucosa. The affected oral mucosa exhibits multiple papules and nodules with each papule/nodule being flat-topped or sessile. The affected region resembles the normal color of oral mucosa rather than appearing as a white color since the epithelial surface is not hyperkeratinized. Almost all cases present with multiple sites of occurrence. This rare, benign epithelial proliferation is related to low-risk HPV, especially HPV-13 and -32, and is not transformed into carcinoma. We report a case of FEH that arose on the attached gingiva of an East Asian male adult related to prosthesis without detection of any HPV subtype in HPV DNA chip and sequencing.

  3. Thin-section computed tomography-histopathologic comparisons of pulmonary focal interstitial fibrosis, atypical adenomatous hyperplasia, adenocarcinoma in situ, and minimally invasive adenocarcinoma with pure ground-glass opacity.

    Science.gov (United States)

    Si, Ming-Jue; Tao, Xiao-Feng; Du, Guang-Ye; Cai, Ling-Ling; Han, Hong-Xiu; Liang, Xi-Zi; Zhao, Jiang-Min

    2016-10-01

    To retrospectively compare focal interstitial fibrosis (FIF), atypical adenomatous hyperplasia (AAH), adenocarcinoma in situ (AIS), and minimally invasive adenocarcinoma (MIA) with pure ground-glass opacity (GGO) using thin-section computed tomography (CT). Sixty pathologically confirmed cases were reviewed including 7 cases of FIF, 17 of AAH, 23of AIS, and 13 of MIA. All nodules kept pure ground glass appearances before surgical resection and their last time of thin-section CT imaging data before operation were collected. Differences of patient demographics and CT features were compared among these four types of lesions. FIF occurred more frequently in males and smokers while the others occurred more frequently in female nonsmokers. Nodule size was significant larger in MIA (P0.05) in age, malignant history, attenuation value, location, and presence of bubble-like lucency. A nodule size >7.5mm increases the possibility of MIA. A concave margin could be useful for differentiation of FIF from the other malignant or pre-malignant GGO nodules. The presence of spiculation or pleural indentation may preclude the diagnosis of AAH. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  4. Attenuated Familial Adenomatous Polyposis

    Science.gov (United States)

    ... adenomatous polyposis coli. A mutation (alteration) in the APC gene gives a person an increased lifetime risk of developing multiple adenomatous colon polyps, colorectal cancer, and other cancers of the digestive tract. People ...

  5. Endometrial cancer arising from atypical complex hyperplasia: The significance in an endometrial biopsy and a diagnostic challenge

    OpenAIRE

    Byun, Jung Mi; Jeong, Dae Hoon; Kim, Young Nam; Cho, En Bee; Cha, Ju Eun; Sung, Moon Su; Lee, Kyung Bok; Kim, Ki Tae

    2015-01-01

    Objective We investigated the features of endometrial hyperplasia with concurrent endometrial cancer that had been diagnosed by endometrial sampling. Further, we attempted to identify an accurate differential diagnostic method. Methods We retrospectively studied 125 patients who underwent a diagnostic endometrial biopsy or were diagnosed after the surgical treatment of other gynecological lesions, such as leiomyoma or polyps. Patients were diagnosed between January 2005 and December 2013 at B...

  6. Parathyroid hyperplasia

    Science.gov (United States)

    Enlarged parathyroid glands; Osteoporosis - parathyroid hyperplasia; Bone thinning - parathyroid hyperplasia; Osteopenia - parathyroid hyperplasia; High calcium level - parathyroid hyperplasia; Chronic ...

  7. Familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    1989-01-01

    Familial adenomatous polyposis is an autosomal dominant disease that includes early development of up to thousands of colorectal adenomas and several extracolonic manifestations. All untreated patients will develop colorectal adenocarcinoma. The treatment of choice is colectomy and ileorectal ana...... a national or regional polyposis register. The recent detection of a specific gene for familial adenomatous polyposis is a long step forward, and several problems may be solved by increasing international cooperation....

  8. Familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    1989-01-01

    of frequent occurrence of premalignant duodenal adenomas. The prognosis is good after prophylactic colectomy in patients without carcinoma. All first degree relatives of affected family members should be examined regularly with proctosigmoidoscopy from the age of ten, and prophylaxis should be organised using...... a national or regional polyposis register. The recent detection of a specific gene for familial adenomatous polyposis is a long step forward, and several problems may be solved by increasing international cooperation....

  9. Associations among benign prostate hypertrophy, atypical adenomatous hyperplasia and latent carcinoma of the prostate%良性前列腺肥大、非典型腺瘤性增生和潜伏性前列腺癌的关联

    Institute of Scientific and Technical Information of China (English)

    Konstantinos Stamatiou; Alevizos Alevizos; Mohamed Natzar; Constantinos Mihas; Anargiros Mariolis; Emmanouel Michalodimitrakis; Fragiskos Sofras

    2007-01-01

    Aim: To investigate the frequency of atypical adenomatous hyperplasia (AAH) and its associations with benign prostate hypertrophy (BPH) and latent histological carcinoma of the prostate (LPC) in autopsy material. Methods:Two hundred and twelve prostate specimens obtained from autopsy material were subjected to whole mount analysis in an attempt to investigate the associations among BPH, AAH and LPC. Results: Most histological carcinomas and AAH lesions were found in enlarged prostates with intense hypertrophy. No statistically significant relation was found between BPH and the main characteristics of LPC, such as tumor volume, histological differentiation and biological behavior. Our data regarding multi-focal tumors showed a tendency for multi-focal carcinomas to develop in larger prostates, and a tendency of AAH lesions to develop in larger prostates. No statistically significant relation was found between AAH and LPC. Conclusion: There seems not any causative aetiopathogenetical or topographical relation between AAH lesions and prostate adenocarcinoma. AAH lesion seems to be a well-defined mimicker of prostatic adenocarcinoma, and the reported association of AAH with prostatic carcinoma could probably be an epiphenomenon.

  10. Oncocytic hyperplasia of the larynx.

    Science.gov (United States)

    Thawley, S E; Berlin, B P; Berkowitz, W P

    1977-07-01

    Oncocytic hyperplasia of the larynx is rare. The lesion most commonly arises from the false vocal chord. A distinction arises between oncocytomas of the salivary glands which are considered to be neoplasms and extrasalivary oncocytic lesions which are secondary to hyperplasia. Oncocytic lesions of the larynx are benign and treatment is excision. They may be multiple, but recurrences are rare.

  11. Familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Rozen Paul

    2009-10-01

    Full Text Available Abstract Familial adenomatous polyposis (FAP is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE, desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system. A less aggressive variant of FAP, attenuated FAP (AFAP, is characterized by fewer colorectal adenomatous polyps (usually 10 to 100, later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC gene. Most patients (~70% have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP, which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a

  12. Genetics Home Reference: familial adenomatous polyposis

    Science.gov (United States)

    ... polyposis , in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years. In people with classic familial adenomatous polyposis , the number of polyps increases with age, and hundreds to ...

  13. Lymphofollicular hyperplasia

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001377.htm Lymphofollicular hyperplasia To use the sharing features on this page, please enable JavaScript. Lymphofollicular hyperplasia is an increase in the size of the ...

  14. Diagnosis of familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    1991-01-01

    Familial adenomatous polyposis (FAP) includes early development of up to thousands of colorectal adenomas and of colorectal adenocarcinoma in all untreated cases. Moreover, a variety of extracolonic manifestations are seen. Proctosigmoidoscopy is used for screening; when adenomas are found, the d...... preclinical diagnosis in the future. A centralized registration of FAP has resulted in an improved prognosis, and the establishment of international groups will contribute to increased research of this disease....

  15. Analysis of mtDNA sequence variants in colorectal adenomatous polyps

    Directory of Open Access Journals (Sweden)

    Grizzle William

    2010-10-01

    Full Text Available Abstract Colorectal tumors mostly arise from sporadic adenomatous polyps. Polyps are defined as a mass of cells that protrudes into the lumen of the colon. Adenomatous polyps are benign neoplasms that, by definition display some characteristics of dysplasia. It has been shown that polyps were benign tumors which may undergo malignant transformation. Adenomatous polyps have been classified into three histologic types; tubular, tubulovillous, and villous with increasing malignant potential. The ability to differentially diagnose these colorectal adenomatous polyps is important for therapeutic intervention. To date, little efforts have been directed to identifying genetic changes involved in adenomatous polyps. This study was designed to examine the relevance of mitochondrial genome alterations in the three adenomatous polyps. Using high resolution restriction endonucleases and PCR-based sequencing, fifty-seven primary fresh frozen tissues of adenomatous polyps (37 tumors and 20 matched surrounding normal tissues obtained from the southern regional Cooperative Human Tissue Network (CHTN and Grady Memorial Hospital at Atlanta were screened with three mtDNA regional primer pairs that spanned 5.9 kbp. Results from our data analyses revealed the presence of forty-four variants in some of these mitochondrial genes that the primers spanned; COX I, II, III, ATP 6, 8, CYT b, ND 5, 6 and tRNAs. Based on the MITODAT database as a sequence reference, 25 of the 44 (57% variants observed were unreported. Notably, a heteroplasmic variant C8515G/T in the MT-ATP 8 gene and a germline variant 8327delA in the tRNAlys was observed in all the tissue samples of the three adenomatous polyps in comparison to the referenced database sequence. A germline variant G9055A in the MT-ATP 6 gene had a frequency of 100% (17/17 in tubular and 57% (13/23 in villous adenomas; no corresponding variant was in tubulovillous adenomas. Furthermore, A9006G variant at MT-ATP 6 gene was

  16. Endometrial Hyperplasia

    Science.gov (United States)

    ... of certain conditions, such as diabetes mellitus , polycystic ovary syndrome, gallbladder disease, or thyroid disease Obesity Cigarette smoking Family history of ovarian, colon, or uterine cancer What are the types of endometrial hyperplasia? Endometrial ...

  17. ANGIOLYMPHOID HYPERPLASIA

    National Research Council Canada - National Science Library

    RAMESH ARAVAMUTHAN; Mani Suriyakumar; SARANKUMAR SUDHAKAR

    2015-01-01

    Angiolymphoid hyperplasia with eosinophilia (ALHE) is an uncommon benign idiopathic condition that manifests in adults, characterized by isolated or grouped papules, plaques, or nodules in the skin of the head and neck...

  18. Familial adenomatous polyposis: from bedside to benchside.

    LENUS (Irish Health Repository)

    O'Sullivan, M J

    2012-02-03

    Familial adenomatous polyposis (FAP) is a dominantly inherited cancer-predisposition syndrome with an incidence of between 1:17,000 and 1:5,000. The condition has been causally linked to mutation of the adenomatous polyposis coli (APC) gene located at 5q21. Virtually all mutations in the APC gene are truncating mutations, resulting in loss of function of the APC protein. Spontaneous germline mutation of this gene occurs frequently and accounts for the high incidence of FAP. The gene is somatically mutated at an early point in the colorectal adenoma-carcinoma progression. Somatic mutations of the APC gene are also frequently observed in a variety of other human carcinomas. Isolation of the APC gene has led to the recognition of genotype-phenotype correlations and, together with protein studies, has helped to elucidate the structure and function of the APC protein. This report aims to take the reader from a clinical appreciation to a molecular understanding of FAP.

  19. Immunopurification of adenomatous polyposis coli (APC) proteins

    OpenAIRE

    Elliott, Kerryn L.; Catimel, Bruno; Church, Nicole L; Janine L Coates; Antony W Burgess; Layton, Meredith J.; Faux, Maree C.

    2013-01-01

    Background The adenomatous polyposis coli (APC) tumour suppressor gene encodes a 2843 residue (310 kDa) protein. APC is a multifunctional protein involved in the regulation of β-catenin/Wnt signalling, cytoskeletal dynamics and cell adhesion. APC mutations occur in most colorectal cancers and typically result in truncation of the C-terminal half of the protein. Results In order to investigate the biophysical properties of APC, we have generated a set of monoclonal antibodies which enable puri...

  20. Causes of death in familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Galle, T S; Juel, K; Bülow, S

    1999-01-01

    The prognosis in familial adenomatous polyposis (FAP) has improved over the past decades owing to a reduction in the prevalence of colorectal cancer, resulting from effective early screening. During the same period several polyposis registers have recorded an increasing number of deaths due...... to duodenal/periampullary cancer and desmoid tumours. The aim of this study was to examine the causes of death with special emphasis on duodenal/periampullary cancer....

  1. Verrucous Hyperplasia

    Science.gov (United States)

    Grover, Sonal; Jha, Mihir; Sharma, Bhushan; Kapoor, Shekhar; Mittal, Kumud; Parakkat, Nithin K.; Shivappa, Anil B.; Kaur, Ravleen

    2017-01-01

    Verrucous hyperplasia (VH) is a rare exophytic oral mucosal lesion which can transform into verrucous carcinoma (VC), its malignant but clinically similar counterpart. These entities can be distinguished by the lack of invasive growth in VH cases; as such, it is essential to include a margin with adequate depth when performing a biopsy of the epithelium of the lesion. We report an 80-year-old male patient who presented to the Bapuji Dental College & Hospital, Davangere, Karanataka, India, in 2011 with a warty whitish-pink growth on the inside of his cheek. The patient was treated with wide surgical excision of the lesion and a diagnosis of VH was made based on histopathological features. There was no evidence of recurrence at a five-year follow-up. This report highlights the histological variations, pathogenesis and differential diagnosis of VH. PMID:28417036

  2. Attenuated familial adenomatous polyposis (AFAP). A review of the literature

    DEFF Research Database (Denmark)

    Knudsen, Anne Lyster; Bisgaard, Marie Luise; Bülow, Steffen

    2003-01-01

    Over the last decade, a subset of familial adenomatous polyposis (FAP) patients with a milder course of disease termed attenuated familial adenomatous polyposis (AFAP) has been described. AFAP is not well-defined as a disease entity - the reports on AFAP are largely casuistic or only deal...

  3. Attenuated familial adenomatous polyposis (AFAP). A review of the literature

    DEFF Research Database (Denmark)

    Knudsen, Anne Lyster; Bisgaard, Marie Luise; Bülow, Steffen

    2003-01-01

    Over the last decade, a subset of familial adenomatous polyposis (FAP) patients with a milder course of disease termed attenuated familial adenomatous polyposis (AFAP) has been described. AFAP is not well-defined as a disease entity - the reports on AFAP are largely casuistic or only deal with a ...

  4. Tumor suppressor genes in familial adenomatous polyposis.

    Science.gov (United States)

    Eshghifar, Nahal; Farrokhi, Naser; Naji, Tahereh; Zali, Mohammadreza

    2017-01-01

    Colorectal cancer (CRC) is mostly due to a series of genetic alterations that are being greatly under the influence of the environmental factors. These changes, mutational or epigenetic modifications at transcriptional forefront and/or post-transcriptional effects via miRNAs, include inactivation and the conversion of proto-oncogene to oncogenes, and/or inactivation of tumor suppressor genes (TSG). Here, a thorough review was carried out on the role of TSGs with the focus on the APC as the master regulator, mutated genes and mal-/dysfunctional pathways that lead to one type of hereditary form of the CRC; namely familial adenomatous polyposis (FAP). This review provides a venue towards defining candidate genes that can be used as new PCR-based markers for early diagnosis of FAP. In addition to diagnosis, defining the modes of genetic alterations will open door towards genome editing to either suppress the disease or reduce its progression during the course of action.

  5. Extra-Abdominal Desmoid Tumors Associated with Familial Adenomatous Polyposis

    Directory of Open Access Journals (Sweden)

    George T. Calvert

    2012-01-01

    Full Text Available Extra-abdominal desmoid tumors are a significant cause of morbidity in patients with familial adenomatous polyposis syndrome. Understanding of the basic biology and natural history of these tumors has increased substantially over the past decade. Accordingly, medical and surgical management of desmoid tumors has also evolved. This paper analyzes recent evidence pertaining to the epidemiology, molecular biology, histopathology, screening, and treatment of extra-abdominal desmoid tumors associated with familial adenomatous polyposis syndrome.

  6. Thyroid carcinoma associated with familial adenomatous polyposis.

    Science.gov (United States)

    Cetta, F; Toti, P; Petracci, M; Montalto, G; Disanto, A; Lorè, F; Fusco, A

    1997-09-01

    Thyroid carcinoma is an extracolonic manifestation that is present in about 1% to 2% of patients with familial adenomatous polyposis (FAP). Less than 100 cases have been reported in detail. We have investigated the suggestion that FAP associated thyroid carcinoma is significantly different morphologically from both papillary and follicular types and can be considered as a separate entity. Specimens from three patients with FAP associated thyroid tumours, all but one having single nodules, have been analysed. All three patients belonged to an extended kindred (23 siblings in four generations) who had genetic analysis and intensive screening for thyroid nodules. Seven patients had the same APC mutation at codon 1061. Pathological examination revealed a typical papillary carcinoma, encapsulated variant, in all patients, with follicular areas in one case. All thyroid specimens, in addition to histological and immunohistological examinations, were also specifically studied for activation of the RET-PTC oncogene, that seems to be restricted to papillary thyroid carcinoma. Two of the three patients had RET-PTC activation (PTC1 isoform). The findings suggest that the tumours were certainly papillary, at least in the present kindred. Further studies in different families are required for a better understanding of this peculiar tumour and of its biological behaviour.

  7. Dental anomalies in pediatric patients with familial adenomatous polyposis.

    Science.gov (United States)

    Septer, Seth; Bohaty, Brenda; Onikul, Robin; Kumar, Vandana; Williams, Karen B; Attard, Thomas M; Friesen, Craig A; Friesen, Lynn Roosa

    2017-09-08

    Familial adenomatous polyposis patients often present with non-malignant extra-intestinal manifestations which include dental anomalies that may be evident prior to the appearance of the colonic adenomas. The aims of this study were to describe the prevalence and type of dental anomalies and the relationships between gene mutations and dental anomalies in these patients. Twenty-two pediatric familial adenomatous polyposis patients and 46 controls, who were age and gender matched participated. Familial adenomatous polyposis patient's had a dental examination with panoramic radiograph and medical record review for age at diagnosis, the presence of the adenomatous polyposis coli gene mutation, and determination of other extra-intestinal manifestations on the body. The control group was identified from a retrospective chart review and selected if there was a current panoramic radiograph. The only significant difference between familial adenomatous polyposis patients and controls were the presence of jaw osteomas and sclerosis (p = .0001). Patients with a mutation in, or upstream of codon 1309 had a higher frequency of osteomas (77.8%) and jaw-bone sclerosis (44.4%), and 77% of these had at least one dental anomaly. This preliminary study showed an association between a genetic variant at, or upstream of codon 1309, and radiographic dental anomalies.

  8. Identification of an APC Variant in a Patient with Clinical Attenuated Familial Adenomatous Polyposis

    Directory of Open Access Journals (Sweden)

    Andrew T. Schlussel

    2014-01-01

    Full Text Available Introduction. The objective of this case report is to discuss an unclassified germline variant of the adenomatous polyposis coli (APC gene identified in an older patient with attenuated familial adenomatous polyposis syndrome (AFAP. Methods. We present a case report of a 66-year-old man diagnosed with AFAP. Colonoscopy found multiple polyps and invasive adenocarcinoma arising in the transverse colon. Samples were tested for mutations in the APC gene. Results. DNA sequencing of germline DNA identified a cytosine (C to thymine (T transition at nucleotide 1240, heterozygous. The C to T transition at codon 414 is predicted to convert an arginine residue to a cysteine that is possibly pathogenic. Analysis of the patient’s colon tumor DNA indicated that the tumor had lost the mutant variant allele and retained only the normal allele, suggesting that the variant may not be significant. Conclusions. The p.R414C variant has been described previously as a germline mutation of probable pathogenicity. This substitution should be considered an unclassified variant and possibly not pathogenic. These findings support the need for further genetic testing of tissue, as well as for developing a mechanism for testing all variants, as this could significantly impact the lives of patients and their family members.

  9. Benign prostate hyperplasia (BPH) - resources

    Science.gov (United States)

    Resources - benign prostatic hyperplasia (BPH); Prostate enlargement resources; BPH resources ... The following organizations provide information on benign prostatic hyperplasia ( prostate enlargement ... Urology Care Foundation -- www. ...

  10. Familial adenomatous polyposis associated APC gene mutation - A case study

    Directory of Open Access Journals (Sweden)

    Avinash Bardia1, Santosh K. Tiwari1, Sandeep K. Vishwakarma1, Md. Aejaz Habeeb1, Pratibha Nallari2, Aleem A. Khan1

    2013-08-01

    Full Text Available Familial adenomatous polyposis (FAP is an autosomal dominant condition characterized by diffuse intestinal polyposis, specific gene mutation, and predisposition for developing colon cancer. Left untreated, patients with FAP will develop colorectal carcinoma during early adulthood. Hence, early detection and surgical intervention are of the utmost importance. Colectomy is required and may include an ileal pouch with ileo-anal anastomosis, which eli-minates the colon and rectal disease while preserving fecal continence and avoidance of a permanent ileostomy. We report a case of colorectal cancer along with FAP showed features consistent with adenomatous polyposis coli and no evidence of malignancy was seen after the surgery.

  11. Angiolymphoid Hyperplasia With Eosinophilia

    Directory of Open Access Journals (Sweden)

    Rath Namita

    2002-01-01

    Full Text Available Angiolymphoid hyperplasia with eosinophilia is a disease of the occident. It is mainly seen in middle aged women. It presents as multiple small pink or purple popular or nodular eruptions, in the head and neck area. Lesions of angiolymphoid hyperplasia with eosinophilia are often confused with lesions of Kimura’s disease, which is more common in young males. We report a case of angiolymphoid hyperplasia with eosinophilia in a 34 year old female. The patient is responding to monthly intralesional triamcinolone acetate along with cryotherapy with liquid nitrogen. This case is being reported due to its rarity in Indian patients.

  12. Desmoid tumour in familial adenomatous polyposis. A review of literature

    DEFF Research Database (Denmark)

    Knudsen, Anne Louise; Bülow, Steffen

    2001-01-01

    Desmoid tumours (DT) are rare benign tumours that do not metastasise, but tend to invade locally. DT are frequently seen in patients with familial adenomatous polyposis (FAP), and diagnosis and treatment are often difficult. Surgical trauma, genetic predisposition and hormonal factors are conside...

  13. Angiolymphoid hyperplasia with eosinophilia

    National Research Council Canada - National Science Library

    Farhadian, Joshua A; Shvartsbeyn, Marianna; Meehan, Shane A; Urbanek, Richard W

    2015-01-01

    Angiolymphoid hyperplasia with eosinophilia is a rare, benign, vascular proliferation that presents as dome-shaped, light-pink-to-red-brown papules or subcutaneous masses that lack distinguishing surface changes...

  14. Congenital Adrenal Hyperplasia

    National Research Council Canada - National Science Library

    Speiser, Phyllis W

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group...

  15. Congenital adrenal hyperplasia

    Science.gov (United States)

    ... to treat congenital adrenal hyperplasia do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the child's body cannot make. It is important for parents ...

  16. Management of Benign Prostatic Hyperplasia in Older Adults.

    Science.gov (United States)

    Woodard, Todd J; Manigault, Kendra R; McBurrows, Niesha N; Wray, Tiffany L; Woodard, Laresa M

    Benign prostatic hyperplasia (BPH), also known as benign prostatic hypertrophy, is a nonmalignant adenomatous overgrowth of the periurethral prostate gland commonly seen in aging men. Historically, it has been assumed that the pathophysiology of lower urinary tract symptoms in men is the result of bladder outlet obstruction associated with prostate enlargement. Symptoms such as urinary hesitancy, incomplete bladder emptying, dribbling or prolonged urination, nocturia, urinary urgency, and/or urge incontinence are common. Understanding the differential diagnosis and ordering appropriate laboratory tests are essential in accurately identifying a BPH diagnosis. Management can be broken down into medical or pharmacological and surgical therapies. This article aims to provide an overview of BPH and its management in older adults.

  17. Atypical focal nodular hyperplasia of the liver

    Institute of Scientific and Technical Information of China (English)

    Muhammad Rizwan Khan; Taimur Saleem; Tanveer Ul Haq; Kanwal Aftab

    2011-01-01

    BACKGROUND: Focal nodular hyperplasia, a benign hepatic tumor, is usually asymptomatic. However, rarely the entity can cause symptoms, mandating intervention. METHOD: We present a case of focal nodular hyperplasia of the liver, which caused a considerable diagnostic dilemma due to its atypical presentation. RESULTS: A 29-year-old woman presented with a 15-year history of a progressively increasing mass in the right upper quadrant which was associated with pain and emesis. Examination showed a firm, mobile mass palpable below the right subcostal margin. A computed tomography scan of the abdomen showed an exophytic mass arising from hepatic segments III and IVb. Trucut biopsy of the hepatic mass was equivocal. Angiography showed a vascular tumor that was supplied by a tortuous branch of the proper hepatic artery. Surgical intervention for removal of the mass was undertaken. Intra-operatively, two large discrete tumors were found and completely resected. Histopathological examination showed features consistent with focal nodular hyperplasia. CONCLUSION: This description of an unusual case of focal nodular hyperplasia of the liver highlights the point that the diagnosis of otherwise benign hepatic tumors may be difficult despite extensive work-up in some cases.

  18. Hyperplasia and endometrial precancer

    Directory of Open Access Journals (Sweden)

    O. A. Gornikh

    2011-01-01

    Full Text Available Hyperplastic process is nothing but excessive proliferation determining by histological or cytological method. Extending of theprecancer" conception including not only atypical endometrial hyperplasia but also other pathological changes of the endometriu m (glandu- lar-cystic hyperplasia, polyposis, with the marked endocrine and metabolic disorders background is of some scientific interest and encour- ages a search for a wide range of hypothetical pathogenetic mechanisms and w ays to prevent precancer and endometrial cancer . However, such an extension of the view on the endometrial precancer is not an equivalent of the nosological diagnosis which involves anexact morpho- logic substrate of the pathological process and a specific treatment policy.

  19. [Focal epithelial hyperplasia].

    Science.gov (United States)

    Vera-Iglesias, E; García-Arpa, M; Sánchez-Caminero, P; Romero-Aguilera, G; Cortina de la Calle, P

    2007-11-01

    Focal epithelial hyperplasia is a rare disease of the oral mucosa caused by the human papilloma virus (HPV). It appears as a benign epithelial growth, usually in the mucosa of the lower lip. It is mainly associated with HPV serotypes 13 and 32 and there is a clear racial predilection for the disease in Native Americans and Eskimos. We describe the case of a 17-year-old girl from Ecuador with multiple papular lesions in both lips that were clinically and histologically consistent with focal epithelial hyperplasia. Analysis by polymerase chain reaction detected HPV serotype 13.

  20. The Arising of Results

    DEFF Research Database (Denmark)

    Sobisch, Jan-Ulrich

    2013-01-01

    Some Buddhist scholars have periodized the expected lifetime of the Buddha's teachings. According to them, these periods of 500 years each have different characteristics. The first is called 'the period of the results'. Therefore some scholars have claimed that only in the first 500 years after...... the Buddha results can arise. Kyobpa Jigten Sumgön has argued that results arise through practise as long as Dharma and Sangha exist....

  1. Chondroblastoma arising from acromion

    Institute of Scientific and Technical Information of China (English)

    WANG Min; ZHOU Yue; REN Xian-jun; ZHANG Xia; WANG Jian

    2005-01-01

    @@ Chondroblastoma is an uncommon benign tumor arising in the epiphysis of long bones such as humerus, tibia and femur while the skeletal or extraskeletal presentations are mostly unusual. The chondroblastoma arising from acromion process of scapulus has been extremely rare and only two cases can be screened out in the English literature[1,2]. Here, we reported another case of chondroblastoma that developed on the acromion of scapulus.

  2. Benign Prostatic Hyperplasia

    Science.gov (United States)

    ... prostate gets bigger, it may press on the urethra and cause the flow of urine to be slower and less forceful. "Benign" means the enlargement isn't caused by cancer or infection. "Hyperplasia" means enlargement. SymptomsWhat are the ...

  3. Subareolar Sclerosing Ductal Hyperplasia.

    Science.gov (United States)

    Cheng, Esther; D'Alfonso, Timothy M; Arafah, Maria; Marrero Rolon, Rebecca; Ginter, Paula S; Hoda, Syed A

    2017-02-01

    Subareolar sclerosing duct hyperplasia (SSDH) remains to be fully characterized nearly 20 years after initial description. Thirty-five SSDH cases diagnosed over a 16-year period (January 2000 to December 2015) were reviewed. All patients were female (mean age = 59 years, range = 18-80) who had presented with a unilateral solitary lesion (left 22, right 13) with a mean size of 1.3 cm (range = 0.4-3.0 cm), and showed florid and papillary epithelial hyperplasia with dense sclerosis without involvement of nipple or areolar epidermis. Significant lesions concurrent within SSDH included low-grade adenosquamous carcinoma (n = 1), ductal carcinoma in situ (DCIS; n = 1), lobular carcinoma in situ (LCIS; n = 1), and atypical ductal hyperplasia (ADH; n = 13). No case of SSDH recurred in a mean follow-up of 44 months (range = 6-189). Subsequent significant lesions occurred in 6 patients: DCIS (n = 3; ipsilateral 2, contralateral 1), ipsilateral ADH (n = 2), and ipsilateral atypical lobular hyperplasia (n = 1). Long-term follow-up for patients with SSDH is indicated as DCIS can occur subsequently in either breast.

  4. SOLITARY VILLO ADENOMATOUS POLYP WITH CARCINOMATOUS CHANGES – RECTUM: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Divvya

    2014-07-01

    Full Text Available olitary villo-adenomatous polyp in the rectum with focal dysplastic changes involving both adenomatous and villous component is very uncommon. This 60 year old male patient presented with intermittent hematochezia. Colonoscopy did not reveal any other polypoidal lesion in the colon.

  5. Benign Prostatic Hyperplasia

    OpenAIRE

    Gil Ortega, Joan

    2015-01-01

    Benign prostatic hyperplasia (BPH) is a prevalent disease but its molecular mechanism remains unknown. Using human tissue samples from 16 patients diagnosed with BPH, we performed an ultrastructural study to clarify the mechanism and the role of glandular cells in this pathology. We have made a description of all the changes that suffers the prostatic epithelium. We have shown that the glandular architecture presents many non-physiological forms such as papillae and papillary fronds. Basal c...

  6. Oral focal epithelial hyperplasia.

    Science.gov (United States)

    López-Jornet, Pía; Camacho-Alonso, Fabio; Berdugo, Lucero

    2010-01-01

    Focal epithelial hyperplasia (FEH) is a benign, asymptomatic disease. It appears as papules, principally on the lower lip, although it can also be found on the retro-commissural mucosa and tongue and, less frequently, on the upper lip, gingiva and palate. FEH is caused by human papillomavirus subtype 13 or 32. The condition occurs in many populations and ethnic groups. We present the clinical case of a 31-year-old male with lesions that clinically and histologically corresponded to FEH.

  7. Pathologic pancreatic endocrine cell hyperplasia

    Institute of Scientific and Technical Information of China (English)

    Debra Ouyang; Deepti Dhall; Run Yu

    2011-01-01

    Pathologic hyperplasia of various pancreatic endocrine cells is rare but has been long known. β cell hyperplasia contributes to persistent hyperinsulinemic hypoglycemia of infancy, which is commonly caused by mutations in the islet ATP-sensitive potassium channel, and to noninsulinoma pancreatogenous hypoglycemia in adults,which may or may not be associated with bariatric surgery.α cell hyperplasia may cause glucagonoma syndrome or induce pancreatic neuroendocrine tumors. An inactivating mutation of the glucagon receptor causes α cell hyperplasia and asymptomatic hyperglucagonemia.Pancreatic polypeptide cell hyperplasia has been described without a clearly-characterized clinical syndrome and hyperplasia of other endocrine cells inside the pancreas has not been reported to our knowledge.Based on morphological evidence, the main pathogenetic mechanism for pancreatic endocrine cell hyperplasia is increased endocrine cell neogenesis from exocrine ductal epithelium. Pancreatic endocrine cell hyperplasia should be considered in the diagnosis and management of hypoglycemia, elevated islet hormone levels,and pancreatic neuroendocrine tumors. Further studies of pathologic pancreatic endocrine cell hyperplasia will likely yield insights into the pathogenesis and treatment of diabetes and pancreatic neuroendocrine tumors.

  8. Pathologic pancreatic endocrine cell hyperplasia

    Science.gov (United States)

    Ouyang, Debra; Dhall, Deepti; Yu, Run

    2011-01-01

    Pathologic hyperplasia of various pancreatic endocrine cells is rare but has been long known. β cell hyperplasia contributes to persistent hyperinsulinemic hypoglycemia of infancy, which is commonly caused by mutations in the islet ATP-sensitive potassium channel, and to non-insulinoma pancreatogenous hypoglycemia in adults, which may or may not be associated with bariatric surgery. α cell hyperplasia may cause glucagonoma syndrome or induce pancreatic neuroendocrine tumors. An inactivating mutation of the glucagon receptor causes α cell hyperplasia and asymptomatic hyperglucagonemia. Pancreatic polypeptide cell hyperplasia has been described without a clearly-characterized clinical syndrome and hyperplasia of other endocrine cells inside the pancreas has not been reported to our knowledge. Based on morphological evidence, the main pathogenetic mechanism for pancreatic endocrine cell hyperplasia is increased endocrine cell neogenesis from exocrine ductal epithelium. Pancreatic endocrine cell hyperplasia should be considered in the diagnosis and management of hypoglycemia, elevated islet hormone levels, and pancreatic neuroendocrine tumors. Further studies of pathologic pancreatic endocrine cell hyperplasia will likely yield insights into the pathogenesis and treatment of diabetes and pancreatic neuroendocrine tumors. PMID:21245985

  9. Glycoprotein expression by adenomatous polyps of the colon

    Science.gov (United States)

    Roney, Celeste A.; Xie, Jianwu; Xu, Biying; Jabour, Paul; Griffiths, Gary; Summers, Ronald M.

    2008-03-01

    Colon cancer is the second leading cause of cancer related deaths in the United States. Specificity in diagnostic imaging for detecting colorectal adenomas, which have a propensity towards malignancy, is desired. Adenomatous polyp specimens of the colon were obtained from the mouse model of colorectal cancer called adenomatous polyposis coli-multiple intestinal neoplasia (APC Min). Histological evaluation, by the legume protein Ulex europaeus agglutinin I (UEA-1), determined expression of the glycoprotein α-L-fucose. FITC-labelled UEA-1 confirmed overexpression of the glycoprotein by the polyps on fluorescence microscopy in 17/17 cases, of which 13/17 included paraffin-fixed mouse polyp specimens. In addition, FITC-UEA-1 ex vivo multispectral optical imaging of 4/17 colonic specimens displayed over-expression of the glycoprotein by the polyps, as compared to non-neoplastic mucosa. Here, we report the surface expression of α-L-fucosyl terminal residues by neoplastic mucosal cells of APC specimens of the mouse. Glycoprotein expression was validated by the carbohydrate binding protein UEA-1. Future applications of this method are the development of agents used to diagnose cancers by biomedical imaging modalities, including computed tomographic colonography (CTC). UEA-1 targeting to colonic adenomas may provide a new avenue for the diagnosis of colorectal carcinoma by CT imaging.

  10. Surgical treatment of familial adenomatous polyposis: dilemmas and current recommendations.

    Science.gov (United States)

    Campos, Fábio Guilherme

    2014-11-28

    Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps (predisposing to colorectal cancer development) and numerous extracolonic manifestations. The underlying genetic burden generates variable clinical features that may influence operative management. As a precancerous hereditary condition, the rationale of performing a prophylactic surgery is a mainstay of FAP management. The purpose of the present paper is to bring up many controversial aspects regarding surgical treatment for FAP, and to discuss the results and perspectives of the operative choices and approaches. Preferably, the decision-making process should not be limited to the conventional confrontation of pros and cons of ileorectal anastomosis or restorative proctocolectomy. A wide discussion with the patient may evaluate issues such as age, genotype, family history, sphincter function, the presence or risk of desmoid disease, potential complications of each procedure and chances of postoperative surveillance. Therefore, the definition of the best moment and the choice of appropriate procedure constitute an individual decision that must take into consideration patient's preferences and full information about the complex nature of the disease. All these facts reinforce the idea that FAP patients should be managed by experienced surgeons working in specialized centers to achieve the best immediate and long-term results.

  11. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  12. Results of national registration of familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    2003-01-01

    BACKGROUND AND AIMS: The Danish Polyposis Register was established in 1971 with the aim of improving the poor prognosis of familial adenomatous polyposis (FAP), and in 1975 the register became national. The aim of the present study was to evaluate the prevalence of colorectal cancer and survival...... and molecular genetic examination, and affected individuals were treated by colectomy. RESULTS: At the end of 2001, the Danish Polyposis Register included 434 patients from 165 families. The incidence rate was 1.90x10(-6) and the prevalence rate 4.65x10(-5). Colorectal cancer on the basis of FAP constituted 0......-2001, demonstrated a decreased prevalence of colorectal cancer from 60% to 27% (p

  13. Atypical presentation of pseudomembranous colitis localized in adenomatous polyps.

    Science.gov (United States)

    Hernández-Rocha, Cristian; Barra-Carrasco, Jonathan; Guzmán, Ana María; Paredes-Sabja, Daniel; Lezcano, Gabriel; Zoroquiaín, Pablo; Alvarez-Lobos, Manuel

    2013-01-14

    The most frequent cause of pseudomembranous colitis is Clostridium difficile (C. difficile) infection. This type of colitis is characterized by an endoscopic pattern of numerous small, yellowish or whitish plaques diffusely distributed, which typically compromises the rectum extending to proximal colon. Occasionally, the pseudomembranes compromise only the transverse or right colon, but their exclusive localization over polyps has not been reported. In this case report we have described a patient with symptoms compatible with C. difficile infection and positive for C. difficile toxigenic culture. Colonoscopy examination showed two small polyps with a whitish surface, and histopathological analysis confirmed them to be pseudomembranes over tubular adenomas. The rest of the colonic mucosa was normal and no other cause was demonstrated. We suggest that this particular distribution might be due to a higher affinity for dysplastic cells such as adenomatous polyps of colon by C. difficile and/or its toxins.

  14. Papillary thyroid carcinoma in three siblings with familial adenomatous polyposis.

    Science.gov (United States)

    Civitelli, S; Tanzini, G; Cetta, F; Petracci, M; Pacchiarotti, M C; Civitelli, B

    1996-01-01

    The authors report three siblings (two sisters and their aunt, aged 20, 22 and 36, respectively) with familial adenomatous polyposis (FAP) and papillary thyroid carcinoma. After diagnosis of FAP, a single, non palpable nodule was revealed in each patient by routine screening ultrasonography of the gland. The diagnosis of papillary carcinoma was made by fine-needle-aspiration biopsy of the nodules and confirmed by histologic examination of surgical specimens. A review of the literature reveals about 40 reports of such an association, that is considered not fortuitous. Nevertheless, in this family the association seems to be a distinctive, clinical feature of the syndrome, affecting three out of five members intensively screened for extracolonic lesions.

  15. Evaluation of management of desmoid tumours associated with familial adenomatous polyposis in Dutch patients

    NARCIS (Netherlands)

    Nieuwenhuis, M. H.; Mathus-Vliegen, E. M.; Baeten, C. G.; Nagengast, F. M.; van der Bijl, J.; van Dalsen, A. D.; Kleibeuker, J. H.; Dekker, E.; Langers, A. M.; Vecht, J.; Peters, F. T.; van Dam, R.; van Gemert, W. G.; Stuifbergen, W. N.; Schouten, W. R.; Gelderblom, H.; Vasen, H. F. A.

    2011-01-01

    BACKGROUND: The optimal treatment of desmoid tumours is controversial. We evaluated desmoid management in Dutch familial adenomatous polyposis (FAP) patients. METHODS: Seventy-eight FAP patients with desmoids were identified from the Dutch Polyposis Registry. Data on desmoid morphology, management,

  16. Surveillance and management of upper gastrointestinal disease in Familial Adenomatous Polyposis

    DEFF Research Database (Denmark)

    Gallagher, Michelle C; Phillips, Robin K S; Bülow, Steffen

    2006-01-01

    Almost all patients affected by Familial Adenomatous polyposis (FAP) will develop foregut as well as hindgut polyps, and following prophylactic colectomy duodenal cancer constitutes one of the leading causes of death in screened populations. Without prophylactic colectomy, FAP patients predictabl...

  17. Open versus laparoscopic (assisted) ileo pouch anal anastomosis for ulcerative colitis and familial adenomatous polyposis

    NARCIS (Netherlands)

    Ali, Usama Ahmed; Keus, Frederik; Heikens, Joost T.; Bemelman, Willem A.; Berdah, Stephane V.; Gooszen, H. G.; van Laarhoven, Cees J. H. M.

    2009-01-01

    Background Restorative proctocolectomy with ileo pouch anal anastomosis (IPAA) is the main surgical treatment for patients with ulcerative colitis (UC) and familial adenomatous polyposis (FAP). With the advancements of minimal-invasive surgery this demanding operation is increasingly being performed

  18. Multiple Eruptive Sebaceous Hyperplasia Secondary to Cyclosporin in a Patient with Bone Marrow Transplantation

    Directory of Open Access Journals (Sweden)

    Begonia Cortés

    2016-11-01

    Full Text Available Many cutaneous complications have been described in patients treated with cyclosporin. Alterations of the pilosebaceous unit such as hypertrichosis are particularly frequent. However, the occurrence of sebaceous hyperplasia is exceptional. These lesions seem to be specific to cyclosporin rather than secondary to immunosuppression. Here, we report an exceptional case of eruptive and disseminated sebaceous hyperplasia arising in a bone marrow transplant recipient only a few months after starting immunosuppressive treatment with cyclosporin.

  19. Congenital hemifacial hyperplasia

    Directory of Open Access Journals (Sweden)

    S A Deshingkar

    2011-01-01

    Full Text Available Congenital hemifacial hyperplasia (CHH is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge.

  20. Extensive focal epithelial hyperplasia.

    Science.gov (United States)

    Hashemipour, Maryam Alsadat; Shoryabi, Ali; Adhami, Shahrzad; Mehrabizadeh Honarmand, Hoda

    2010-01-01

    Heck's disease or focal epithelial hyperplasia is a benign contagious disease caused by human papillomavirus types 13 or 32. It occurs with low frequency in the Iranian population. This condition is characterized by the occurrence of multiple, small papules or nodules in the oral cavity, especially on the labial and buccal mucosa and tongue. In some populations, up to 39% of children are affected. Conservative surgical excision of lesions may be performed for diagnostic or aesthetic purposes. The risk of recurrence after this therapy is minimal, and there seems to be no malignant transformation potential. In the present work, we presented the clinical case of a 12-year-old Iranian girl with oral lesions that clinically and histologically correspond to Heck's disease.

  1. Thymic hyperplasia in Graves’ disease

    OpenAIRE

    Narendra Kotwal; Yashpal Singh; Anil Menon; Vineet Behera

    2013-01-01

    Graves′ disease is an autoimmune thyroid condition characterized by the production of autoantibodies against the thyrotropin receptor. It is known to be associated with autoimmune conditions such as myasthenia gravis, Addison′s disease, type 1 diabetes mellitus, and vitiligo. We present a case of rare autoimmune association of Graves′ disease with thymic hyperplasia which regressed after treatment with antithyroid drugs. Exact pathophysiology of thymic hyperplasia in Graves′ is not well under...

  2. [Congenital Adrenal Hyperplasia in Adults].

    Science.gov (United States)

    Vrbíková, Jana

    2016-01-01

    Congenital adrenal hyperplasia is a life-long disease requiring an integrated therapy. It may negatively influence the quality of life. In childhood, the main problems of the care of these patients involve sex determination and ensuring optimum growth and puberty. The therapeutic goals for adults are the prevention of Addisonian crisis and ensuring the best possible quality of life, including fertility.Key words: androgens - cardiovascular risk - congenital adrenal hyperplasia - bone density - testicular rest tumors.

  3. Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids.

    Directory of Open Access Journals (Sweden)

    Els Robanus-Maandag

    Full Text Available Desmoid tumours (also called deep or aggressive fibromatoses are potentially life-threatening fibromatous lesions. Hereditary desmoid tumours arise in individuals affected by either familial adenomatous polyposis (FAP or hereditary desmoid disease (HDD carrying germline mutations in APC. Most sporadic desmoids carry somatic mutations in CTNNB1. Previous studies identified losses on 5q and 6q, and gains on 8q and 20q as recurrent genetic changes in desmoids. However, virtually all genetic changes were derived from sporadic tumours. To investigate the somatic alterations in FAP-associated desmoids and to compare them with changes occurring in sporadic tumours, we analysed 17 FAP-associated and 38 sporadic desmoids by array comparative genomic hybridisation and multiple ligation-dependent probe amplification. Overall, the desmoids displayed only a limited number of genetic changes, occurring in 44% of cases. Recurrent gains at 8q (7% and 20q (5% were almost exclusively found in sporadic tumours. Recurrent losses were observed for a 700 kb region at 5q22.2, comprising the APC gene (11%, a 2 Mb region at 6p21.2-p21.1 (15%, and a relatively large region at 6q15-q23.3 (20%. The FAP-associated desmoids displayed a significantly higher frequency of copy number abnormalities (59% than the sporadic tumours (37%. As predicted by the APC germline mutations among these patients, a high percentage (29% of FAP-associated desmoids showed loss of the APC region at 5q22.2, which was infrequently (3% seen among sporadic tumours. Our data suggest that loss of region 6q15-q16.2 is an important event in FAP-associated as well as sporadic desmoids, most likely of relevance for desmoid tumour progression.

  4. Multi-focal lobular carcinoma in situ arising in benign phylodes tumor: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Taeg Ki; Choi, Chang Hwan; Kim, Youn Jeong; Kim, Mi Young; Lee, Kyung Hee; Cho, Soon Gu [Inha University Hospital, Incheon (Korea, Republic of)

    2015-08-15

    Coexistent breast malignancy arising in phyllodes tumor is extremely rare, and most of them are incidental reports after surgical excision. Coexistent malignancy in phyllodes tumor can vary from in-situ to invasive carcinoma. Lobular neoplasia is separated into atypical lobular hyperplasia and lobular carcinoma in situ (LCIS). LCIS is known to have a higher risk of developing invasive cancer. We reported imaging findings of multifocal LCIS arising in benign phyllodes tumor.

  5. Desmoids in familial adenomatous polyposis are monoclonal proliferations.

    Science.gov (United States)

    Middleton, S B; Frayling, I M; Phillips, R K

    2000-02-01

    Desmoids are poorly-understood, locally aggressive, non-metastasizing fibromatoses that occur with disproportionate frequency in patients with familial adenomatous polyposis (FAP). Their nature is controversial with arguments for and against a neoplastic origin. Neoplastic proliferations are by definition monoclonal, whereas reactive processes originate from a polyclonal background. We examined clonality of 25 samples of desmoid tissue from 11 female FAP patients by assessing patterns of X-chromosome inactivation to calculate a clonality ratio. Polymerase chain reaction (PCR) amplification of a polymorphic CAG short tandem repeat (STR) sequence adjacent to a methylation-sensitive restriction enzyme site within the human androgen receptor (HUMARA) gene using fluorescent-labelled primers enabled analysis of PCR products by Applied Biosystems Genescan II software. Twenty-one samples from nine patients were informative for the assay. Samples from all informative cases comprised a median of 66% (range 0-75%) clonal cells but from the six patients with a clonality ratio < or =0.5 comprised a median of 71% (65-75%) clonal cells. FAP-associated desmoid tumours are true neoplasms. This may have implications in the development of improved treatment protocols for patients with these aggressive tumours.

  6. Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study

    DEFF Research Database (Denmark)

    Nieuwenhuis, Marry H; Lefevre, Jérémie H; Bülow, Steffen

    2011-01-01

    Ability to identify patients with familial adenomatous polyposis who have a high risk of developing desmoid tumors may affect decisions in clinical practice.......Ability to identify patients with familial adenomatous polyposis who have a high risk of developing desmoid tumors may affect decisions in clinical practice....

  7. Genetics Home Reference: primary macronodular adrenal hyperplasia

    Science.gov (United States)

    ... Genetics Home Health Conditions PMAH primary macronodular adrenal hyperplasia Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Primary macronodular adrenal hyperplasia ( PMAH ) is a disorder characterized by multiple lumps ( ...

  8. Polipose adenomatosa familiar atenuada Attenuated familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Gabriella Oliveira Fernandes

    2007-06-01

    Full Text Available A Polipose Adenomatosa Familiar Atenuada(PAFA é uma síndrome autossômica dominante, de diagnóstico tardio, comparando-se à forma clássica da polipose adenomatosa familiar. Dentre as características da síndrome estão: apresença de menos de 100 pólipos colorretais; b curso brando da doença, com idade tardia do diagnóstico e do aparecimento de câncer; cprevalência maior dos pólipos à direita do cólon; d reto poupado de lesões, na maioria dos casos. Analisar as características clínicas, tratamento e seguimento de 13 pacientes com diagnóstico de PAFA. Dos pacientes estudados, a média de idade ao diagnóstico foi 55 anos. Cinco pacientes apresentavam história familiar de polipose e/ou neoplasia. Nove (69% pacientes já tinham câncer no momento do diagnóstico. A maioria dos pacientes possuía pólipos localizados no cólon direito (31%. Do total, 06 pacientes foram submetidos à ressecção cirúrgica, com proctocolectomia ou colectomia. A média de seguimento dos pacientes foi de 26 meses. O controle foi realizado através de colonoscopias e retossigmoidoscopias, de acordo com o tratamento realizado. O diagnóstico de PAFA foi feito em idade tardia em relação à forma clássica da doença, com a maioria dos pólipos localizados no cólon direito. O controle endoscópico dos pacientes deve ser realizado com rigor. A colectomia com anastomose do íleo-reto é uma boa opção cirúrgica no tratamento dos pacientes, com baixa recidiva de pólipos no reto.Attenuated Familial Adenomatous Polyposis (AFAP is a heritable autosomally dominant syndrome, with later diagnosis than the classical condition of Familial Adenomatous Polyposis. Amid its main features there are : a the presence of less than 100 polyps; b the mild course of the disease and its later diagnosis and development of colon cancer; cthe polyps are more frequent in the right colon; dthe rectum may be relatively or even totally spared. To analyze the clinical

  9. Thymic hyperplasia in Graves′ disease

    Directory of Open Access Journals (Sweden)

    Narendra Kotwal

    2013-01-01

    Full Text Available Graves′ disease is an autoimmune thyroid condition characterized by the production of autoantibodies against the thyrotropin receptor. It is known to be associated with autoimmune conditions such as myasthenia gravis, Addison′s disease, type 1 diabetes mellitus, and vitiligo. We present a case of rare autoimmune association of Graves′ disease with thymic hyperplasia which regressed after treatment with antithyroid drugs. Exact pathophysiology of thymic hyperplasia in Graves′ is not well understood; it is likely to be the result of rather than the cause of Graves′ disease.

  10. Adenomatoid hyperplasia of lower lip

    Directory of Open Access Journals (Sweden)

    Gaganjot Kaur Sharma

    2011-01-01

    Full Text Available Adenomatoid hyperplasia (AH is an uncommon, non-neoplastic swelling on the palate caused due to hyperplasia of the mucinous acini. The lesion clinically presents as a sessile tumor-like nodule resembling pleomorphic adenoma. Histopathologic findings include lobules of enlarged mucinous acini which are filled with secretory granules. The nuclei are squeezed to the basal portions, associated with focal inflammation and ductal dilatation, and a history of trauma is often elicited. Here, we report a rare case of AH of the lower lip in a 20-year-old male patient, which mimics a mucous retention cyst or mucocele.

  11. Focal epithelial hyperplasia: Case report.

    Science.gov (United States)

    Puriene, Alina; Rimkevicius, Arunas; Gaigalas, Mindaugas

    2011-01-01

    The purpose of the present article is to present a 15 year-old patient with focal epithelial hyperplasia and to review the references on the subject-related etiological, pathological, diagnostic and treatment aspects. Focal epithelial hyperplasia is a rare human papilloma virus (HPV) related to oral lesion with very low frequency within our population. Surgical treatment with a biopsy was performed, acanthosis and parakeratosis are consistent histopathological features, since the patient had no history of sexual contact and HIV infection, the virus was probably acquired from environmental sources.

  12. Thymic hyperplasia in Graves' disease.

    Science.gov (United States)

    Kotwal, Narendra; Singh, Yashpal; Menon, Anil; Behera, Vineet

    2013-05-01

    Graves' disease is an autoimmune thyroid condition characterized by the production of autoantibodies against the thyrotropin receptor. It is known to be associated with autoimmune conditions such as myasthenia gravis, Addison's disease, type 1 diabetes mellitus, and vitiligo. We present a case of rare autoimmune association of Graves' disease with thymic hyperplasia which regressed after treatment with antithyroid drugs. Exact pathophysiology of thymic hyperplasia in Graves' is not well understood; it is likely to be the result of rather than the cause of Graves' disease.

  13. A case of giant prostatic hyperplasia

    OpenAIRE

    Luke Wang; Paul Davis; Kevin McMillan

    2016-01-01

    Benign prostatic hyperplasia (BPH) is one of the most common conditions experienced by aging males and a frequent cause of bladder outlet obstruction and macroscopic haematuria. Giant prostatic hyperplasia (GPH) is an extremely rare form of prostatic hyperplasia. We present a case of a patient with GPH of 800 mL. To our knowledge, this is the fourth largest prostatic hyperplasia ever reported in the literature.

  14. A case of giant prostatic hyperplasia

    Directory of Open Access Journals (Sweden)

    Luke Wang

    2016-01-01

    Full Text Available Benign prostatic hyperplasia (BPH is one of the most common conditions experienced by aging males and a frequent cause of bladder outlet obstruction and macroscopic haematuria. Giant prostatic hyperplasia (GPH is an extremely rare form of prostatic hyperplasia. We present a case of a patient with GPH of 800 mL. To our knowledge, this is the fourth largest prostatic hyperplasia ever reported in the literature.

  15. The role of pediatricians in families with a history of familial adenomatous polyposis.

    Science.gov (United States)

    Augustyn, Ann Marie; Wallerstein, Robert

    2009-07-01

    Colon cancer is not an entity that pediatricians routinely confront; however, a family history of colon cancer can have pediatric implications when it is part of familial adenomatous polyposis syndrome. Colonic (multiple intestinal polyps) and extracolonic manifestations (such as hepatoblastoma or brain tumors) can be the presenting features in children. The authors present 2 patients from different families with familial adenomatous polyposis who presented with the extracolonic manifestation of this syndrome and a family history of colon cancer. Identification of these families and education of their primary care givers can lead to improved screening and management of these high-risk individuals.

  16. Non-adenomatous forms of gastro-oesophageal epithelial dysplasia: an under-recognised entity?

    Science.gov (United States)

    Serra, Stefano; Chetty, Runjan

    2014-10-01

    Foveolar dysplasia is an uncommon form of dysplasia that is encountered in the stomach and oesophagus in the context of Barrett’s oesophagus. Glands displaying foveolar dysplasia also show architectural abnormalities that are similar to those encountered in adenomatous dysplasia. However, from a cytological point of view, foveolar dysplasia glands are lined by low-cuboidal to columnar epithelium, the cytoplasm is often clear with round-to-oval nuclei. Nuclear stratification as seen in adenomatous dysplasia is not common, although there is loss of nuclear polarity, pleomorphism and mitotic activity. It is important to distinguish low-grade foveolar dysplasia from regenerative change.

  17. Genotype predicting phenotype in familial adenomatous polyposis: a practical application to the choice of surgery

    DEFF Research Database (Denmark)

    Nieuwenhuis, Marry H; Bülow, Steffen; Björk, Jan

    2009-01-01

    PURPOSE: Genetic information may help preoperatively select patients with familial adenomatous polyposis for either colectomy with ileorectal anastomosis or proctocolectomy with ileal pouch-anal anastomosis. Although complicated, the latter procedure has a low long-term risk of rectal cancer...... the risk of secondary proctectomy after primary colectomy in familial adenomatous polyposis. Patients with severe genotypes have a high risk of reoperation after primary colectomy and will benefit from primary proctocolectomy with ileal pouch-anal anastomosis. The risk of rectal cancer after primary...

  18. Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

    DEFF Research Database (Denmark)

    Bisgaard, M L; Ripa, R; Knudsen, Anne Louise;

    2004-01-01

    BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein compri...... they do not themselves more often represent an isolated case. CONCLUSIONS: The severe phenotype should be considered when counselling FAP families in which attenuated FAP is excluded and in which a causative APC mutation has not been identified.......BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein...... in patients with a known APC mutation and with the phenotypes characteristic of patients with mutations in specific APC regions and domains. PATIENTS: Data on 121 FAP probands and 149 call up patients from 70 different families were extracted from the Danish Polyposis register. METHODS: Differences in 16...

  19. Gastrointestinal Polyposis Syndromes : Clinical and molecular aspects of Familial Adenomatous Polyposis and Juvenile Polyposis

    NARCIS (Netherlands)

    Brosens, L.A.A.

    2008-01-01

    Colorectal cancer (CRC) is an important cause death. In the Netherlands, approximately 10.000 patients are diagnosed with CRC each year. Rare hereditary gastrointestinal polyposis syndromes predisposing to CRC, including familial adenomatous polyposis (FAP), juvenile polyposis (JPS) and Peutz-Jegher

  20. Tumour Suppressor Adenomatous Polyposis Coli (APC) localisation is regulated by both Kinesin-1 and Kinesin-2

    NARCIS (Netherlands)

    Ruane, Peter T; Gumy, Laura F|info:eu-repo/dai/nl/337608334; Bola, Becky; Anderson, Beverley; Wozniak, Marcin J; Hoogenraad, Casper C|info:eu-repo/dai/nl/227263502; Allan, Victoria J

    2016-01-01

    Microtubules and their associated proteins (MAPs) underpin the polarity of specialised cells. Adenomatous polyposis coli (APC) is one such MAP with a multifunctional agenda that requires precise intracellular localisations. Although APC has been found to associate with kinesin-2 subfamily members,

  1. Prevalence of colorectal adenomatous polyps in patients with chronic obstructive pulmonary disease.

    Science.gov (United States)

    Chun, Eun Mi; Kim, Seo Woo; Lim, So Yeon

    2015-01-01

    Colorectal adenomatous polyps are precancerous lesions of colorectal cancer. The aim of this study was to assess the prevalence of colorectal adenomatous polyps in chronic obstructive pulmonary disease (COPD) patients and determine whether COPD is associated with colorectal malignant potential. Subjects who had undergone post-bronchodilator spirometry and colonoscopy and were 40 years or older were selected from the hospital database. COPD was defined as a spirometry in which the ratio of forced expiratory volume in 1 second (FEV1) and forced vital capacity (FVC) is prevalence of colorectal adenomatous polyps was 39% (98/251) in the non-COPD group and 66% (54/82) in the COPD group. Among 54 patients with adenomatous polyps in the COPD group, 47 had tubular adenoma and seven had villous adenoma. Multiple logistic regression analyses revealed that only COPD patients whom matched to the criteria of COPD by pulmonary function test (odds ratio 2.1, 95% confidence interval: 1.1-3.8; P=0.019) were independently associated with colorectal malignant potential. The risk of colorectal malignant potential in the COPD group was higher than in the non-COPD group. We may suggest that COPD patients should consider regular colonoscopic evaluation to screen for premalignant colon polyps regardless of smoking.

  2. Quality of life and consequences for daily life of familial adenomatous polyposis (FAP) family members

    NARCIS (Netherlands)

    Douma, K.F.L.; Bleiker, E.M.A.; Vasen, H.F.A.; Gundy, C.M.; Aaronson, N.K.

    2011-01-01

    Aim  The study aimed to document the impact of familial adenomatous polyposis (FAP) on health-related quality of life (HRQOL) and several practical aspects of daily life and to identify factors associated significantly with HRQOL. This study is the first to compare HRQOL between FAP-patients, at-ris

  3. Quality of life and consequences for daily life of familial adenomatous polyposis (FAP) family members

    NARCIS (Netherlands)

    Douma, K.F.L.; Bleiker, E.M.A.; Vasen, H.F.A.; Gundy, C.M.; Aaronson, N.K.

    2011-01-01

    The study aimed to document the impact of familial adenomatous polyposis (FAP) on health-related quality of life (HRQOL) and several practical aspects of daily life, and to identify factors significantly associated with HRQOL. This study is the first to compare HRQOL between patients with FAP, at-ri

  4. Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

    NARCIS (Netherlands)

    Douma, K.F.L.; Aaronson, N.K.; Vasen, H.F.A.; Verhoef, S.; Gundy, C.M.; Bleiker, E.M.A.

    2010-01-01

    Childhood DNA testing, prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are available for familial adenomatous polyposis (FAP). However, the use of PND and PGD is controversial. The purpose of this study was to investigate attitudes toward, and experiences with, childhood DNA tes

  5. Desmoid tumors in a dutch cohort of patients with familial adenomatous polyposis.

    NARCIS (Netherlands)

    Nieuwenhuis, M.H.; Cappel, W De Vos Tot Nede; Botma, A.; Nagengast, F.M.; Kleibeuker, J.H.; Mathus-Vliegen, E.M.H.; Dekker, E. den; Dees, J.; Wijnen, J.; Vasen, H.F.

    2008-01-01

    BACKGROUND & AIMS: Desmoid tumors are a severe extracolonic manifestation in familial adenomatous polyposis (FAP). Identification of risk factors might be helpful in the management of FAP patients with such tumors. The aim of this study was to assess potential risk factors for the development of des

  6. Desmoid tumors in a dutch cohort of patients with familial adenomatous polyposis

    NARCIS (Netherlands)

    Nieuwenhuis, M.H.; Vos to Nederveen Cappel, de W.; Botma, A.; Nagengast, F.M.; Kleibeuker, J.H.; Mathus-Vliegen, E.M.; Dekker, E.; Dees, J.; Wijnen, J.; Vasen, H.F.

    2008-01-01

    Background & Aims: Desmoid tumors are a severe extracolonic manifestation in familial adenomatous polyposis (FAP). Identification of risk factors might be helpful in the management of FAP patients with such tumors. The aim of this study was to assess potential risk factors for the development of

  7. Association of the DNMT3B polymorphism with colorectal adenomatous polyps and adenocarcinoma.

    Science.gov (United States)

    Guo, Xiaoqing; Zhang, Liwei; Wu, Mingli; Wang, Na; Liu, Yanfeng; Er, Limian; Wang, Shunping; Gao, Yang; Yu, Weifang; Xue, Hui; Xu, Zhibin; Wang, Shijie

    2010-01-01

    DNMT3B is an important enzyme to modulate the methylation status in mammalian cells. The aim of this study is to investigate the correlation of the DNMT3B G39179T polymorphism with the susceptibilities of colorectal adenomatous polyps and adenocarcinoma. This case-control study included 146 colorectal adenomatous polyps, 170 colorectal adenocarcinoma patients, and 157 normal controls. DNMT3B polymorphism was analyzed by polymerase chain reaction-restriction fragment length polymorphism analysis. Family history of colorectal cancer significantly increases the risk of developing colorectal adenomatous polyps and adenocarcinoma. The genotype frequency of DNMT3B polymorphism (T/T and G/T + G/G) in adenocarcinoma patients was significantly different from that in controls (P value = 0.01). Compared with DNMT3B T/T genotype, the G allelotype (G/T + G/G genotype) had lower risk to develop colorectal adenocarcinoma (OR = 0.50, 95% CI = 0.29-0.87); while there was no significant difference between the colorectal adenomatous polyps patients and controls (OR = 0.63, 95% CI = 0.37-1.09), although descending tendency could be found in this polyps group. In the stratification analysis, a significant association was confined to subgroups of age DNMT3B G39179T SNP in different ethnics. DNMT3B G39179T SNP may be a potential genetic susceptibility factor for adenocarcinoma of the colon, especially in younger Chinese Han non-drinker men.

  8. Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposis

    NARCIS (Netherlands)

    Nieuwenhuis, Mary H.; Mathus-Vliegen, Lisbeth M.; Slors, Frederik J.; Griffioen, Gerrit; Nagengast, Fokko M.; Schouten, Wim R.; Kleibeuker, Jan H.; Vasen, Hans F. A.

    2007-01-01

    Background & Aims: The options for prevention of colorectal cancer in familial adenomatous polyposis are either a colectomy with ileorectal anastomosis (IRA) or a total proctocolectomy with ileal pouch-anal anastomosis (IPAA). Rectal cancer risk is eliminated by IPAA, but complication rate is higher

  9. Genotype-phenotype correlations as a guide in the management of familial adenomatous polyposis.

    NARCIS (Netherlands)

    Nieuwenhuis, M.H.; Mathus-Vliegen, L.M.; Slors, F.J.; Griffioen, G.; Nagengast, F.M.; Schouten, W.R.; Kleibeuker, J.H.; Vasen, H.F.

    2007-01-01

    BACKGROUND & AIMS: The options for prevention of colorectal cancer in familial adenomatous polyposis are either a colectomy with ileorectal anastomosis (IRA) or a total proctocolectomy with ileal pouch-anal anastomosis (IPAA). Rectal cancer risk is eliminated by IPAA, but complication rate is higher

  10. Chromosomal and methylation alterations in sporadic and familial adenomatous polyposis-related duodenal carcinomas.

    NARCIS (Netherlands)

    Berkhout, M.; Nagtegaal, I.D.; Cornelissen, S.J.B.; Dekkers, M.M.G.; Molengraft, F.J. van de; Peters, W.H.M.; Nagengast, F.M.; Krieken, J.H.J.M. van; Jeuken, J.W.M.

    2007-01-01

    Primary carcinomas of the small intestine are rare and the mechanism of their pathogenesis is poorly understood. Patients with familial adenomatous polyposis (FAP) have a high risk of developing duodenal carcinomas. The aim of this study is to gain more insight into the development of duodenal carci

  11. Mucosectomy and stapled pouch-anal anastomosis in familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, S

    2012-01-01

    In familial adenomatous polyposis, a restorative proctocolectomy with an ileo-anal pouch may be performed either with a mucosectomy and a hand-sewn anastomosis or as a stapled anastomosis without a mucosectomy. The disadvantage of the former is suboptimal bowel function and the disadvantage...

  12. Prevalence of colorectal adenomatous polyps in patients with chronic obstructive pulmonary disease

    Directory of Open Access Journals (Sweden)

    Chun EM

    2015-05-01

    Full Text Available Eun Mi Chun, Seo Woo Kim, So Yeon Lim Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Republic of Korea Background: Colorectal adenomatous polyps are precancerous lesions of colorectal cancer. The aim of this study was to assess the prevalence of colorectal adenomatous polyps in chronic obstructive pulmonary disease (COPD patients and determine whether COPD is associated with colorectal malignant potential.Methods: Subjects who had undergone post-bronchodilator spirometry and colonoscopy and were 40 years or older were selected from the hospital database. COPD was defined as a spirometry in which the ratio of forced expiratory volume in 1 second (FEV1 and forced vital capacity (FVC is <0.7 in post-bronchodilator spirometry. The non-COPD group was matched for both age and sex, and were defined as having an FEV1, FVC, and FEV1/FVC ≥0.7 in spirometry. Finally, 333 patients were retrospectively reviewed; of this group, 82 patients had COPD.Results: Among the subjects, 201 patients (60% were nonsmokers, while 78 (23% were current smokers. The prevalence of colorectal adenomatous polyps was 39% (98/251 in the non-COPD group and 66% (54/82 in the COPD group. Among 54 patients with adenomatous polyps in the COPD group, 47 had tubular adenoma and seven had villous adenoma. Multiple logistic regression analyses revealed that only COPD patients whom matched to the criteria of COPD by pulmonary function test (odds ratio 2.1, 95% confidence interval: 1.1–3.8; P=0.019 were independently associated with colorectal malignant potential.Conclusion: The risk of colorectal malignant potential in the COPD group was higher than in the non-COPD group. We may suggest that COPD patients should consider regular colonoscopic evaluation to screen for premalignant colon polyps regardless of smoking. Keywords: COPD, colorectal adenomatous polyp, smoking, chronic obstructive pulmonary

  13. Sulfate-reducing bacteria colonize pouches formed for ulcerative colitis but not for familial adenomatous polyposis.

    LENUS (Irish Health Repository)

    Duffy, M

    2012-02-03

    PURPOSE: Ileal pouch-anal anastomosis remains the "gold standard" in surgical treatment of ulcerative colitis and familial adenomatous polyposis. Pouchitis occurs mainly in patients with a background of ulcerative colitis, although the reasons for this are unknown. The aim of this study was to characterize differences in pouch bacterial populations between ulcerative colitis and familial adenomatous pouches. METHODS: After ethical approval was obtained, fresh stool samples were collected from patients with ulcerative colitis pouches (n = 10), familial adenomatous polyposis (n = 7) pouches, and ulcerative colitis ileostomies (n = 8). Quantitative measurements of aerobic and anaerobic bacteria were performed. RESULTS: Sulfate-reducing bacteria were isolated from 80 percent (n = 8) of ulcerative colitis pouches. Sulfate-reducing bacteria were absent from familial adenomatous polyposis pouches and also from ulcerative colitis ileostomy effluent. Pouch Lactobacilli, Bifidobacterium, Bacteroides sp, and Clostridium perfringens counts were increased relative to ileostomy counts in patients with ulcerative colitis. Total pouch enterococci and coliform counts were also increased relative to ileostomy levels. There were no significant quantitative or qualitative differences between pouch types when these bacteria were evaluated. CONCLUSIONS: Sulfate-reducing bacteria are exclusive to patients with a background of ulcerative colitis. Not all ulcerative colitis pouches harbor sulfate-reducing bacteria because two ulcerative colitis pouches in this study were free of the latter. They are not present in familial adenomatous polyposis pouches or in ileostomy effluent collected from patients with ulcerative colitis. Total bacterial counts increase in ulcerative colitis pouches after stoma closure. Levels of Lactobacilli, Bifidobacterium, Bacteroides sp, Clostridium perfringens, enterococci, and coliforms were similar in both pouch groups. Because sulfate-reducing bacteria are

  14. Angiolymphoid hyperplasia with follicular mucinosis

    Directory of Open Access Journals (Sweden)

    Joshi Rajiv

    2007-01-01

    Full Text Available Follicular mucinosis occurring along with angiolymphoid hyperplasia with eosinophils (ALHE has been described in a 54-year-old female. The patient presented with pruritic erythematous papules on the left frontoparietal scalp. Histopathological examination showed prominent blood vessels in the dermis lined by plump histiocytoid endothelial cells that were surrounded by a dense lymphoid infiltrate with numerous eosinophils; these findings are typical of angiolymphoid hyperplasia with eosinophils. Features of follicular mucinosis were observed in the same section with several hyperplastic follicular infundibula containing pools of mucin in the infundibular epithelium. The concurrent occurrence of these two distinct histopathological patterns in the same biopsy specimen has been described in only three cases to date.

  15. Lipomatosis: a diverse form of hemifacial hyperplasia

    OpenAIRE

    Arora, Preeti Chawla; Umarji, Hemant R.; Arora, Aman; Ramaswami, Easwaran

    2012-01-01

    A case of hemifacial hyperplasia that presented with muscular, skeletal, and dental hyperplasia along with lipomatous infiltration was described. Advanced imaging was useful in identifying the lipomatous infiltration present in the lesion, which raises the possibility of lipomatosis having a diverse presentation in hemifacial hyperplasia. As there was a scarcity of related literature in the field of dentomaxillofacial radiology, this report would make us familiar with its computed tomographic...

  16. Lipomatosis: a diverse form of hemifacial hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Arora, Preeti Chawla; Umarji, Hemant R. [Dept. of Oral Medicine, Diagnosis and Radiology, Government Dental College and Hospital, Mumbai (India); Arora, Aman [Dept. of Prosthodontics, Sri Guru Ram Das Institute of Dental Sciences and Research, Amritsar (India); Ramaswami, Easwaran [Oral Medicine, Diagnosis and Radiology, Dr. D.Y. Patil Dental College and Hospital, Navi Mumbai (India)

    2012-09-15

    A case of hemifacial hyperplasia that presented with muscular, skeletal, and dental hyperplasia along with lipomatous infiltration was described. Advanced imaging was useful in identifying the lipomatous infiltration present in the lesion, which raises the possibility of lipomatosis having a diverse presentation in hemifacial hyperplasia. As there was a scarcity of related literature in the field of dentomaxillofacial radiology, this report would make us familiar with its computed tomographic and magnetic resonance image findings.

  17. Unilateral nodular adrenal hyperplasia: Case series

    African Journals Online (AJOL)

    A.F. Kotb

    2016-07-26

    Jul 26, 2016 ... with hyperaldosteronism or Cushing syndrome. Case series: We ... Pathological examination confirmed the diagnosis of nodular hyperplasia. ... Theirpatients were managed by unilateral adrenalectomy and this management.

  18. A rear case of multilocular thymic cyst with follicular lymphoid hyperplasia; Radiologic and histopathologic features

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jin Suk; Cha, Eun Jung [Konyang University Hospital, Daejeon (Korea, Republic of)

    2016-06-15

    Multilocular thymic cysts are rare and acquired lesions induced by an inflammatory arising within the thymus. We report a rare case of multilocular thymic cyst with follicular lymphoid hyperplasia in a 59-year-old female. Chest CT and MRI revealed a large multilocular cystic mass, which contains thick septa and nodules in the thymus. F-18 FDG PET/CT showed almost no FDG uptake of the multilocular cystic mass but moderate FDG uptake of the solid nodules. Extended total thymectomy was performed. Histopathological findings revealed follicular lymphoid hyperplasia of thymic tissue but no neoplastic lesion. Based on these findings, diagnosis of multilocular thymic cyst with follicular lymphoid hyperplasia was made. This is a rare case that preoperatively was difficult to diagnose.

  19. Focal epithelial hyperplasia: Heck disease.

    Science.gov (United States)

    Cohen, P R; Hebert, A A; Adler-Storthz, K

    1993-09-01

    Two sisters of Mexican ancestry had focal epithelial hyperplasia (FEH). The lesions on the oral mucosa of the older child were initially misinterpreted as representing sexual abuse. Microscopic evaluation of a hematoxylin and eosin-stained section from a lower lip papule demonstrated the histologic features of FEH. Although human papillomavirus (HPV) type 13 and HPV32 have been most consistently present in FEH lesions, types 6, 11, 13, and 32 were not detected in the paraffin-embedded tissue specimen of our patient using an in situ hybridization technique. The lesions persisted or recurred during management using destructive modalities; subsequently, they completely resolved spontaneously.

  20. Focal epithelial hyperplasia (Heck's disease

    Directory of Open Access Journals (Sweden)

    Parichehr Gheliani

    2011-11-01

    Full Text Available Focal epithelial hyperplasia (Heck is a rare lesion caused by human papilloma virus subtype 13 or 32 and presents as multiple small white or pink papules on the mucosal surface of lips, buccal mucosa and tongue usually seen in children and adolescent of American Indian and Eskimo background. This disease has a genetic basis. The site of new lesions and recurrence are unpredictable. Continued follow up of the patient is often necessary. In this report, a 50-year-old woman is described with benign papillomatous lesions on dorsal surface of tongue for 15 years

  1. Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.

    Science.gov (United States)

    Liu, Qi; Li, Xiaoxia; Li, Sen; Qu, Shengqiang; Wang, Yu; Tang, Qingzhu; Ma, Hongwei; Luo, Yang

    2016-08-01

    Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized by the development of hundreds to thousands of colonic adenomas and an increased risk of colorectal cancer. Adenomatous polyposis coli (APC), encoding a large multidomain protein involved in antagonizing the Wnt signaling pathway, has been identified as the main causative gene responsible for FAP. In this study, we identified three novel mutations as well as two recurrent mutations in the APC in five Chinese FAP families by sequencing. Immunohistochemical analysis revealed that among these mutations, a nonsense mutation (c.2510C>G) and two small deletions (c.2016_2047del, c.3180_3184del) led to the truncation of the APC protein and the cytoplasmic and nuclear accumulation of β-catenin in the colorectal samples from affected individuals, respectively. Our study expands the database on mutations of APC and provides evidence to understand the function of APC in FAP.

  2. Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

    DEFF Research Database (Denmark)

    Bisgaard, M L; Ripa, R; Knudsen, Anne Louise;

    2004-01-01

    BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein...... comprises several regions and domains for interaction with other proteins, and specific clinical manifestations are associated with the mutation assignment to one of these regions or domains. AIMS: The phenotype in patients without an identified causative APC mutation was compared with the phenotype...... in patients with a known APC mutation and with the phenotypes characteristic of patients with mutations in specific APC regions and domains. PATIENTS: Data on 121 FAP probands and 149 call up patients from 70 different families were extracted from the Danish Polyposis register. METHODS: Differences in 16...

  3. Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

    DEFF Research Database (Denmark)

    Bisgaard, M L; Ripa, R; Knudsen, Anne Louise

    2004-01-01

    BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein...... in patients with a known APC mutation and with the phenotypes characteristic of patients with mutations in specific APC regions and domains. PATIENTS: Data on 121 FAP probands and 149 call up patients from 70 different families were extracted from the Danish Polyposis register. METHODS: Differences in 16...... clinical manifestations were analysed according to the patient's mutational status. Two sided independent t sample test, two sided chi(2) test, and odds ratios were calculated. RESULTS: Patients without identified APC mutations had a unique and severe phenotype, which was roughly described as: young age...

  4. Neuronal hyperplasia in the anal canal

    DEFF Research Database (Denmark)

    Fenger, C; Schrøder, H D

    1990-01-01

    In a consecutive series of minor surgical specimens from the anal canal, neuronal hyperplasia was found in nine of 56 haemorrhoidectomy specimens and in four of 23 fibrous polyps. In an additional series of 14 resections of the anal canal, neuronal hyperplasia was present in six cases, of which...

  5. Adenomatoid hyperplasia of palatal minor salivary glands

    OpenAIRE

    Bryant, C. J.; Manisali, M.; Barrett, A. W.

    1996-01-01

    Adenomatoid hyperplasia of palatal minor mucous glands is rare but significant because the clinical appearance mimics malignant disease. The typical history of a painless, indolent palatal swelling, together with the histological picture of benign glandular hyperplasia and hypertrophy, are illustrated in this report.

  6. Computed tomography in untreated congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Harinarayana, C.V.; Renu, G.; Ammini, A.C.; Khurana, M.L.; Ved, P.; Karmarkar, M.G.; Ahuja, M.M.S.; Berry, M. (AIIMS, New Delhi (India))

    1991-02-01

    Six children with untreated congenital adrenal hyperplasia (CAH) were examined by computed tomography (CT). Three cases demonstrated diffuse enlargement of both adrenal glands with preservation of normal configuration and two showed tumorous transformation in one of the enlarged glands. One had equivocal in this group (age 2 years) also showed bilateral hyperplasia. (orig.).

  7. Oral verrucous hyperplasia: a case report.

    Science.gov (United States)

    Navaneetham, Anuradha; Dayanand Saraswathi, M C; Santosh, B S

    2014-09-01

    Oral verrucous hyperplasia is a whitish or pinkinsh elevated pre malignant lesion which occurs rarely. Its is also considered to be an early form of verrucous carcinoma. We have reported a case of verrucous hyperplasia which was diagnosed and treated with buccal fat pad as graft.

  8. Sulphomucin expression in ileal pouches: emerging differences between ulcerative colitis and familial adenomatous polyposis pouches.

    LENUS (Irish Health Repository)

    Bambury, Niamh

    2012-02-03

    PURPOSE: We characterized the expression of sialomucin and sulphomucin in pouches fashioned for familial adenomatous polyposis and ulcerative colitis. We correlated sulphomucin expression with bacterial colonization and mucosal inflammation. METHODS: Ethical approval and informed consent were obtained. Mucosal biopsies from 9 patients with familial adenomatous polyposis and 12 with ulcerative colitis were obtained. Sulphomucin levels were assessed by using the high iron-diamine stain. Mucous gel layer composition was correlated with villous height, crypt depth, and total mucosal thickness. Mucous gel layer composition was correlated with acute and chronic inflammatory infiltrates. Colonization by a panel of seven bacterial species (including sulphate reducing bacteria) was established and correlated with sulphomucin levels. RESULTS: High-iron-diamine positivity (i.e., sulphomucin expression) was greater in ulcerative colitis pouch mucous gel (2.083 +\\/- 0.5 vs. 0.556 +\\/- 0.4, P = 0.003). Sulphomucin expression correlated with reduced crypt depth, villous height, and total mucosal thickness. In the ulcerative colitis group, chronic inflammatory infiltrate scores were significantly greater for high-iron-diamine-positive patients. Colonization by sulphate reducing bacteria was increased in high-iron-diamine-positive patients. CONCLUSIONS: Sulphomucin expression is increased in the mucous gel layer of the ulcerative colitis pouch compared with that of the familial adenomatous polyposis pouch. Sulphomucin expression is associated with colonization by sulphate-reducing bacteria and increased chronic inflammation.

  9. The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management

    Directory of Open Access Journals (Sweden)

    Leoz ML

    2015-04-01

    Full Text Available Maria Liz Leoz, Sabela Carballal, Leticia Moreira, Teresa Ocaña, Francesc Balaguer Department of Gastroenterology, Hospital Clínic, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBERehd, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS, Barcelona, Catalonia, Spain Abstract: Familial adenomatous polyposis (FAP is an inherited disorder that represents the most common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were initially identified as responsible for FAP, and later, several studies have also implicated the MUTYH gene as responsible for this disease, usually referred to as MUTYH-associated polyposis (MAP. FAP and MAP are characterized by the early onset of multiple adenomatous colorectal polyps, a high lifetime risk of colorectal cancer (CRC, and in some patients the development of extracolonic manifestations. The goal of colorectal management in these patients is to prevent CRC mortality through endoscopic and surgical approaches. Individuals with FAP and their relatives should receive appropriate genetic counseling and join surveillance programs when indicated. This review is focused on the description of the main clinical and genetic aspects of FAP associated with germline APC mutations and MAP. Keywords: colorectal cancer, familial adenomatous polyposis, MAP, APC, MUTYH

  10. Colorectal adenomatous polyposis syndromes: Genetic determinism, clinical presentation and recommendations for care.

    Science.gov (United States)

    Buecher, Bruno

    2016-02-01

    Colorectal adenomatous polyposis constitutes a diverse group of disorders with different modes of inheritance. Molecular diagnosis of this condition has become more complex. In fact, somatic mosaicism for APC mutations now appears to be more frequent than previously thought and rare germline alterations of this gene may be implicated in patients tested negative for "classical" APC mutations (point mutations and large genomic rearrangements). Moreover, the knowledge concerning several aspects of the MUTYH-associated polyposis has improved since its first description in 2002 and germline mutations in new genes have recently been implicated in some cases of unexplained adenomatous polyposis. Genetic testing in probands and their relatives should be conducted in the context of pre- and post-test genetic counseling. The recent advent of New Generation Sequencing (NGS) techniques affords the opportunity to rapidly screen patients for a comprehensive panel of colorectal cancer susceptibility genes in a cost-effective fashion. This type of approach will probably replace the classical sequential approach based on clinical presumptive diagnoses in the near future. The risk of colorectal cancer is very high in affected patients in the absence of appropriate care. Clinical management is complex and should be provided in centers with special expertise in these diseases. This review focuses on the various colorectal adenomatous polyposis syndromes with special attention to more innovative and important aspects.

  11. Imaging Characteristics of Pathologically Proven Thymic Hyperplasia: Identifying Features That Can Differentiate True From Lymphoid Hyperplasia

    Science.gov (United States)

    Araki, Tetsuro; Sholl, Lynette M.; Gerbaudo, Victor H.; Hatabu, Hiroto; Nishino, Mizuki

    2014-01-01

    OBJECTIVE The purpose of this article is to investigate the imaging characteristics of pathologically proven thymic hyperplasia and to identify features that can differentiate true hyperplasia from lymphoid hyperplasia. MATERIALS AND METHODS Thirty-one patients (nine men and 22 women; age range, 20–68 years) with pathologically confirmed thymic hyperplasia (18 true and 13 lymphoid) who underwent preoperative CT (n = 27), PET/CT (n = 5), or MRI (n = 6) were studied. The length and thickness of each thymic lobe and the transverse and anterior-posterior diameters and attenuation of the thymus were measured on CT. Thymic morphologic features and heterogeneity on CT and chemical shift on MRI were evaluated. Maximum standardized uptake values were measured on PET. Imaging features between true and lymphoid hyperplasia were compared. RESULTS No significant differences were observed between true and lymphoid hyperplasia in terms of thymic length, thickness, diameters, morphologic features, and other qualitative features (p > 0.16). The length, thickness, and diameters of thymic hyperplasia were significantly larger than the mean values of normal glands in the corresponding age group (p hyperplasia was significantly higher than that of true hyperplasia among 15 patients with contrast-enhanced CT (median, 47.9 vs 31.4 HU; Wilcoxon p = 0.03). The receiver operating characteristic analysis yielded greater than 41.2 HU as the optimal threshold for differentiating lymphoid hyperplasia from true hyperplasia, with 83% sensitivity and 89% specificity. A decrease of signal intensity on opposed-phase images was present in all four cases with in- and opposed-phase imaging. The mean maximum standardized uptake value was 2.66. CONCLUSION CT attenuation of the thymus was significantly higher in lymphoid hyperplasia than in true hyperplasia, with an optimal threshold of greater than 41.2 HU in this cohort of patients with pathologically confirmed thymic hyperplasia. PMID:24555583

  12. Focal epithelial hyperplasia - an update.

    Science.gov (United States)

    Said, Ahmed K; Leao, Jair C; Fedele, Stefano; Porter, Stephen R

    2013-07-01

    Focal epithelial hyperplasia (FEH) is an asymptomatic benign mucosal disease, which is mostly observed in specific groups in certain geographical regions. FEH is usually a disease of childhood and adolescence and is generally associated with people who live in poverty and of low socioeconomic status. Clinically, FEH is typically characterized by multiple, painless, soft, sessile papules, plaques or nodules, which may coalesce to give rise to larger lesions. Human papillomavirus (HPV), especially genotypes 13 and 32, have been associated and detected in the majority of FEH lesions. The clinical examination and social history often allow diagnosis, but histopathological examination of lesional tissue is usually required to confirm the exact diagnosis. FEH sometimes resolves spontaneously however, treatment is often indicated as a consequence of aesthetic effects or any interference with occlusion. There remains no specific therapy for FEH, although surgical removal, laser excision or possibly topical antiviral agents may be of benefit. There remains no evidence that FEH is potentially malignant.

  13. Laser tonsillotomy in children with tonsillar hyperplasia.

    Science.gov (United States)

    Baharudin, A; Shahid, H; Rhendra, M Z

    2006-08-01

    Tonsillectomy in children is performed on a regular basis in ENT. The indications are chronic tonsillitis, sleep apnea to deeper structures. The natural history of tonsillar hyperplasia is regression when a child is six years beyond. In children with bilateral tonsillar hyperplasia we studied the use of laser as an alternative procedure to reduce the bulk of the tonsillar mass. Children with symptoms of bilateral tonsillar hyperplasia underwent laser tonsillotomy. The tonsils were dissected using carbon dioxide (CO2) laser. The tonsillar bed was left untouched. Intraoperative and postoperative conditions were noted.

  14. A Pacinian hyperplasia of the foot.

    Science.gov (United States)

    Satge, D; Nabhan, J; Nandiegou, Y; Hermann, B; Goburdhun, J; Labrousse, F

    2001-04-01

    A case of Pacinian hyperplasia of the right great toe is reported. Pacinian hyperplasia is a rare benign and recently recognized painful lesion composed of an excess of well formed or hyperplastic Pacinian corpuscules, normaly involved in sensory innervation. This lesion that is usually observed in the hand, must be distinguished from nerve tumors harboring onion-bulb structure which are not true well formed Pacinian corpuscules and from Morton neuroma. Pacinian hyperplasia is considered a reactive lesion and not a true neoplasm. To our knowledge, this case is the first described in the foot.

  15. The advances of familial adenomatous polyposis%家族性腺瘤性息肉病研究进展

    Institute of Scientific and Technical Information of China (English)

    张敏; 兰风华

    2014-01-01

    家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)以结直肠内生长成百上千枚息肉为主要特征,不进行治疗的患者几乎100%发展成大肠癌,主要由腺瘤性息肉病基因(adenomatous polyposis coli,APC)突变所致,越来越多学者发现APC基因突变位点和FAP临床表现具有一定相关性.本文将从FAP的分型、临床表现、诊断标准、致病基因APC、基因-表型相关性及治疗监测等方面作一综述.%Familial adenomatous polyposis (FAP) is a common hereditary syndrome that is characterized by the numerous adenomatous polyps in the colon and rectum,and almost all patients will develop colorectal cancer without treatment.It is mainly caused by a germline mutation of adenomatous polyposis coli (APC) gene,and more and more studies have attempted to correlate the location of the mutations on APC gene with clinical phenotypes.The aim of this review is to summarize the current clinical and genetic knowledge of FAP and the genotype-phenotype correlations.

  16. Alcoholic beverages and adenomatous polyps of the sigmoid colon: a study of male self-defence officials in Japan.

    Science.gov (United States)

    Kono, S; Ikeda, N; Yanai, F; Shinchi, K; Imanishi, K

    1990-12-01

    The drinking habits of 86 men with adenomatous polyps of the sigmoid colon were compared to those of 1184 men with normal colonoscopy among middle-aged male self-defence officials. After adjustment for rank, smoking history and rice consumption, total ethanol intake was positively associated with the risk of adenomatous polyps. The odds ratio (OR) was 2.4 (95% confidence interval (CI) 1.0-5.5) for men consuming at least 60 ml of ethanol per day. Among five alcoholic beverages (shochu, beer, sake, whiskey and wine), both sake and beer showed a dose-response relationship with the risk of adenomatous polyps although the association with beer was less striking. Shochu was the largest source of ethanol intake in the study population, but there was virtually no association between shochu consumption and adenomatous polyps. Men drinking wine had a significantly increased risk, but these men were too few to examine the relation in detail. The findings suggest that the consumption of specific alcoholic beverages rather than ethanol itself is associated with an increased risk of adenomatous polyps of the sigmoid colon.

  17. Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia and Neuroendocrine Hyperplasia of Infancy.

    Science.gov (United States)

    Carr, Laurie L; Kern, Jeffrey A; Deutsch, Gail H

    2016-09-01

    Although incidental reactive pulmonary neuroendocrine cell hyperplasia (PNECH) is seen on biopsy specimens in adults with chronic lung disease, disorders characterized by marked PNECH are rare. Primary hyperplasia of neuroendocrine cells in the lung and obstructive lung disease related to remodeling or physiologic constriction of small airways define diffuse idiopathic neuroendocrine cell hyperplasia (DIPNECH) in the adult and neuroendocrine cell hyperplasia of infancy (NEHI) in children. DIPENCH and NEHI share a similar physiology, typical imaging appearance, and increased neuroendocrine cells on biopsy. However, there are important differences related to the underlying disease mechanisms leading to disparate outcomes.

  18. Oncogenic mutations in adenomatous polyposis coli (Apc activate mechanistic target of rapamycin complex 1 (mTORC1 in mice and zebrafish

    Directory of Open Access Journals (Sweden)

    Alexander J. Valvezan

    2014-01-01

    Full Text Available Truncating mutations in adenomatous polyposis coli (APC are strongly linked to colorectal cancers. APC is a negative regulator of the Wnt pathway and constitutive Wnt activation mediated by enhanced Wnt–β-catenin target gene activation is believed to be the predominant mechanism responsible for APC mutant phenotypes. However, recent evidence suggests that additional downstream effectors contribute to APC mutant phenotypes. We previously identified a mechanism in cultured human cells by which APC, acting through glycogen synthase kinase-3 (GSK-3, suppresses mTORC1, a nutrient sensor that regulates cell growth and proliferation. We hypothesized that truncating Apc mutations should activate mTORC1 in vivo and that mTORC1 plays an important role in Apc mutant phenotypes. We find that mTORC1 is strongly activated in apc mutant zebrafish and in intestinal polyps in Apc mutant mice. Furthermore, mTORC1 activation is essential downstream of APC as mTORC1 inhibition partially rescues Apc mutant phenotypes including early lethality, reduced circulation and liver hyperplasia. Importantly, combining mTORC1 and Wnt inhibition rescues defects in morphogenesis of the anterior-posterior axis that are not rescued by inhibition of either pathway alone. These data establish mTORC1 as a crucial, β-catenin independent effector of oncogenic Apc mutations and highlight the importance of mTORC1 regulation by APC during embryonic development. Our findings also suggest a new model of colorectal cancer pathogenesis in which mTORC1 is activated in parallel with Wnt/β-catenin signaling.

  19. Oxidative stress in benign prostate hyperplasia.

    Science.gov (United States)

    Zabaiou, N; Mabed, D; Lobaccaro, J M; Lahouel, M

    2016-02-01

    To assess the status of oxidative stress in benign prostate hyperplasia, a very common disease in older men which constitutes a public health problem in Jijel, prostate tissues were obtained by transvesical adenomectomy from 10 men with benign prostate hyperplasia. We measured the cytosolic levels of malondialdehyde (MDA) and glutathione (GSH) and cytosolic enzyme activities of superoxide dismutase, catalase, glutathione peroxidase and glutathione S-transferase. The development of benign prostate hyperplasia is accompanied by impaired oxidative status by increasing levels of MDA, depletion of GSH concentrations and a decrease in the activity of all the antioxidant enzymes studied. These results have allowed us to understand a part of the aetiology of benign prostate hyperplasia related to oxidative stress.

  20. Deep vein thrombosis in a patient of adenomatous polyposis coli treated successfully with aspirin: A case report

    Science.gov (United States)

    Agrawal, Neha; Santra, Tuhin; Kar, Arnab; Guha, Pradipta; Bar, Mita; Adhikary, Apu; Datta, Sumana

    2016-01-01

    Background: Deep vein thrombosis is an important cause of morbidity and mortality. However, its association with adenomatous polyposis coli is extremely rare. Here we present an interesting case of deep vein thrombosis associated with adenomatous polyposis coli. Case Presentation: A 15 year old female who was having fever and diarrhea for 5 months developed bilateral asymmetric painful swelling of lower limbs for 1 month. Doppler ultrasound of lower limbs revealed presence of thrombosis from inferior vena cava up to popliteal vein. Colonoscopy and biopsy were suggestive of adenomatous polyposis coli. However, she could not tolerate anticoagulant therapy and was put on aspirin therapy for 6 months to which she responded well with the resolution of thrombus. Conclusion: Role of aspirin therapy may be considered whenever a patient of venous thrombosis cannot tolerate anticoagulant therapy. PMID:27386068

  1. A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction

    Directory of Open Access Journals (Sweden)

    Manoochehr Karjoo

    2017-01-01

    Full Text Available Familial adenomatous polyposis (FAP is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also been well described in association with various syndromic extra-gastrointestinal manifestations. Less commonly, patients with FAP present with varying degrees of cognitive dysfunction and developmental delay, though the reason for the association is unclear. Herein, we report the case of a male patient born with an interstitial deletion of chromosome 5q, 46,XY, del(5 (q14q23, presenting with familial adenomatous polyposis (FAP, profound developmental delay, cognitive dysfunction, and multiple congenital anomalies including talipes equinovarus, agenesis of the corpus callosum, and dysmorphic facial features.

  2. Gingival enlargement in partial hemifacial hyperplasia

    OpenAIRE

    Jagtap, Rasika Ravindra; Deshpande, Gaurav Shekhar

    2014-01-01

    Hemifacial hypertrophy is a rare developmental disorder, characterized by unilateral enlargement of facial tissues. The hemifacial hyperplasia is classified as true hemifacial hypertrophy and partial hemifacial hypertrophy. It is unilateral enlargement of viscerocranial condition in which not all structures are enlarged. We present a rare case of gingival enlargement in partial hemifacial hyperplasia highlighting the clinical and radiological findings with the corrective treatment offered for...

  3. An uncommon focal epithelial hyperplasia manifestation.

    Science.gov (United States)

    dos Santos-Pinto, Lourdes; Giro, Elisa Maria Aparecida; Pansani, Cyneu Aguiar; Ferrari, Junia; Massucato, Elaine Maria Sgavioli; Spolidório, Luis Carlos

    2009-01-01

    Focal epithelial hyperplasia is a rare, contagious disease associated with infection of the oral mucosa by human papillomavirus types 13 or 32, characterized by multiple soft papules of the same color as the adjacent normal mucosa. It mainly affects the lower lip, buccal mucosa, and tongue. The purpose of this case report was to describe a rare verrucal lesion located in the upper gingiva that was clinically and histologically consistent with focal epithelial hyperplasia.

  4. Oxidative stress in prostate hyperplasia and carcinogenesis

    OpenAIRE

    Udensi K. Udensi; Tchounwou, Paul B.

    2016-01-01

    Prostatic hyperplasia (PH) is a common urologic disease that affects mostly elderly men. PH can be classified as benign prostatic hyperplasia (BPH), or prostate cancer (PCa) based on its severity. Oxidative stress (OS) is known to influence the activities of inflammatory mediators and other cellular processes involved in the initiation, promotion and progression of human neoplasms including prostate cancer. Scientific evidence also suggests that micronutrient supplementation may restore the a...

  5. Clinical outcomes of gastric polyps and neoplasms in patients with familial adenomatous polyposis

    Science.gov (United States)

    Nakamura, Keiko; Nonaka, Satoru; Nakajima, Takeshi; Yachida, Tatsuo; Abe, Seiichiro; Sakamoto, Taku; Suzuki, Haruhisa; Yoshinaga, Shigetaka; Oda, Ichiro; Matsuda, Takahisa; Sekine, Shigeki; Kanemitsu, Yukihide; Katai, Hitoshi; Saito, Yutaka; Hirota, Seiichi

    2017-01-01

    Background and study aims Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by the presence of more than 100 adenomatous polyps in the colorectum. The upper gastrointestinal tract is an extracolonic site for malignancy in patients with FAP. The frequency of death in Japanese patients with FAP because of gastric cancer is 2.8 % and that because of colon cancer is 60.6 %. Few studies have reported upper gastrointestinal diseases in patients with FAP. In the present study, we investigated the clinical outcomes of patients with FAP diagnosed with gastric neoplasms. Patients and methods We enrolled 80 patients with FAP who underwent esophagogastroduodenoscopy from October 1997 to December 2011. We investigated patient characteristics, endoscopic findings of gastric lesions, treatment outcomes, and long-term courses. Results Fundic gland polyposis was observed in 51 patients (64 %) and gastric neoplasms in 22 patients (28 %), including 20 with non-invasive and 2 with invasive neoplasm. Of the 26 neoplasms, 11 were treated by endoscopic resection (ER) and 4 by surgical resection. Metachronous gastric neoplasms were observed in 7 patients (15 lesions) and treated by ER, except for in 1 patient. No patients died of gastric lesions during a median follow-up period of 6.5 years (range, 0 – 14). Conclusion Because gastric lesions including gastric cancers in patients with FAP did not cause any deaths, they can be considered to have favorable prognoses. Early detection of gastric neoplasms through an appropriate follow-up interval may have contributed to these good outcomes. PMID:28271094

  6. Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk.

    Science.gov (United States)

    Wong, Hui-Lee; Peters, Ulrike; Hayes, Richard B; Huang, Wen-Yi; Schatzkin, Arthur; Bresalier, Robert S; Velie, Ellen M; Brody, Lawrence C

    2010-09-01

    While germline mutations in the adenomatous polyposis coli (APC) gene cause the hereditary colon cancer syndrome (familial adenomatous polyposis (FAP)), the role of common germline APC variants in sporadic adenomatous polyposis remains unclear. We studied the association of eight APC single nucleotide polymorphisms (SNPs), possibly associated with functional consequences, and previously identified gene-environment (dietary fat intake and hormone replacement therapy (HRT) use) interactions, in relation to advanced colorectal adenoma in 758 cases and 767 sex- and race-matched controls, randomly selected from the screening arm of the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial. Cases had at least one verified advanced adenoma of the distal colon; controls, a negative sigmoidoscopy. We did not observe an association between genotypes for any of the eight APC SNPs and advanced distal adenoma risk (P(global gene-based)=0.92). Frequencies of identified common haplotypes did not differ between cases and controls (P(global haplotype test)=0.97). However, the risk for advanced distal adenoma was threefold higher for one rare haplotype (cases: 2.7%; controls: 1.6%) (odds ratio (OR)=3.27; 95% confidence interval (CI)=1.08-9.88). The genetic association between D1822V and advanced distal adenoma was confined to persons consuming a high-fat diet (P(interaction)=0.03). Similar interactions were not observed with HRT use. In our large, nested case-control study of advanced distal adenoma and clinically verified adenoma-free controls, we observed no association between specific APC SNPs and advanced adenoma. Fat intake modified the APC D1822V-adenoma association, but further studies are warranted.

  7. Ultrasonographic evaluation of parathyroid hyperplasia in multiple endocrine neoplasia type 1: Positive correlation between parathyroid volume and circulating parathyroid hormone concentration.

    Science.gov (United States)

    Tamiya, Hiroyuki; Miyakawa, Megumi; Takeshita, Akira; Miura, Daishu; Takeuchi, Yasuhiro

    2015-09-01

    There are few reports on parathyroid ultrasonography of multiple endocrine neoplasia type 1 (MEN1). This study investigated the ultrasonographic features of parathyroid glands in 10 patients with MEN1 who underwent preoperative neck ultrasonography and parathyroidectomy between 2006 and 2010 at Toranomon Hospital. We retrospectively analyzed clinical features, laboratory and ultrasonographic data, and pathological diagnosis. A total of 38 parathyroid glands were surgically removed (three to five glands from each patient). All removed parathyroids were pathologically diagnosed as hyperplasia. Seven cases (70.0 %) had adenomatous thyroid nodules. Twenty-five enlarged parathyroid glands (65.8 %) were detected by preoperative ultrasonography with a detection rate of 81.8 % (9/11) and 59.3 % (16/27) for patients without and with adenomatous nodules, respectively. Total parathyroid gland weight and potentially predictable total parathyroid volume by preoperative ultrasonography were significantly correlated with preoperative serum intact parathyroid hormone (iPTH) concentration (R = 0.97, P parathyroid glands by ultrasonography difficult, the positive correlation between the predictable parathyroid volume by ultrasonography and serum iPTH suggests that their measurement is useful in the preoperative detection and localization of enlarged parathyroid glands in patients with MEN1. Furthermore, the presence of parathyroid glands that should be resected can be predicted before surgery using the equation proposed here.

  8. Angiolymphoid hyperplasia with eosinophilia developing within a port wine stain.

    Science.gov (United States)

    Manton, Robert N; Itinteang, Tinte; de Jong, Sophie; Brasch, Helen D; Tan, Swee T

    2016-01-01

    A 19-year-old male with a port wine stain on the base of his neck presented with a 5-month history of gradual thickening of the involved skin which interfered with clothing and caused repeated bleeding. The lesion was excised and histopathologic examination revealed angiolymphoid hyperplasia with eosinophilia (ALHE) arising from the pre-existing port wine stain - a rare finding with only one previously reported case. Additionally the lesion was associated with elevated serum renin levels which virtually normalized following excision of the lesion. We further demonstrated the expression of angiotensin converting enzyme and angiotensin II receptors 1 and 2 by the lesion and discuss the possible role of the renin-angiotensin system in this condition.

  9. Management of adolescents with congenital adrenal hyperplasia

    Science.gov (United States)

    Merke, Deborah P; Poppas, Dix P

    2014-01-01

    The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For these reasons, treatment regimen reassessment is indicated during adolescence. Patients with non-classic congenital adrenal hyperplasia require reassessment regarding the need for glucocorticoid drug treatment. No clinical trials have compared various regimens for classic congenital adrenal hyperplasia in adults, thus therapy is individualised and based on the prevention of adverse outcomes. Extensive patient education is key during transition from paediatric care to adult care and should include education of females with classic congenital adrenal hyperplasia regarding their genital anatomy and surgical history. Common issues for these patients include urinary incontinence, vaginal stenosis, clitoral pain, and cosmetic concerns; for males with classic congenital adrenal hyperplasia, common issues include testicular adrenal rest tumours. Transition from paediatric to adult care is most successful when phased over many years. Education of health-care providers on how to successfully transition patients is greatly needed. PMID:24622419

  10. Adenomatous polyp with intestinal metaplasia of the esophagus (Barrett esophagus) in a dog.

    Science.gov (United States)

    Gibson, C J; Parry, N M A; Jakowski, R M; Cooper, J

    2010-01-01

    Multiple endoscopic biopsy specimens of esophageal mucosa were received from a 13-year-old castrated male standard Poodle. The dog was presented for painful swallowing. Endoscopically, the distal aspect of the esophagus was inflamed with a polypoid mass that protruded into the esophageal lumen. Histologically, the stratified squamous epithelium overlying the mass and lining the adjacent esophageal mucosa was replaced by papillary projections covered by columnar epithelium with goblet cells supported by a fibrous stroma. This article reports a case of spontaneous esophageal adenomatous polyp with intestinal metaplasia (Barrett esophagus) and reviews the pathogenesis of esophageal metaplasia and adenocarcinoma.

  11. Familial adenomatous polyposis with synchronous invasive colonic carcinomas and metastatic jejunal adenocarcinoma in a Nigerian male

    Directory of Open Access Journals (Sweden)

    Emeka Blessius Kesieme

    2010-12-01

    Full Text Available Familial adenomatous polyposis is rare. Three cases were previously reported in Nigeria. An intriguing feature of this case is an ulcerated jejunal carcinoma which was metastatic rather than synchronous carcinoma. This patient presented with partial large bowel obstruction and the pathological analysis revealed 4 invasive adenocarcinomas, 3 in the colon and 1 in the jejunum (Dukes stage D. Palliative pancolectomy and jejunal tumour resection with chemotherapy was offered to him. He died eight months after surgery from disease progression. The challenges of managing a hereditary cancer syndrome in a resource poor country are highlighted.

  12. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test

    Energy Technology Data Exchange (ETDEWEB)

    Van Der Luut, R.; Khan, P.M.; Van Leeuwen, C.; Tops, C.; Roest, P.; Den Dunnen, J. (Leiden Univ. (Netherlands))

    1994-03-01

    Familial adenomatous polyposis (FAP) is usually associated with protein truncating mutations in the adenomatous polyposis coli (APC) gene. The APC mutations are known to play a major role in colorectal carcinogensis. For the identification of protein truncating mutations of the APC gene, the authors developed a rapid, sensitive, and direct screening procedure. The technique is based on the in vitro transcription and translation of the genomic PCR products and is called the protein truncation test. Samples of DNA from individual FAP patients, members of a FAP family, colorectal tumors, and colorectal tumor-derived cell lines were used to show the effectiveness of this method. 9 refs., 2 figs.

  13. Nocturia and benign prostatic hyperplasia

    Directory of Open Access Journals (Sweden)

    Laketić Darko

    2008-01-01

    Full Text Available Background/Aim. Nocturia often occurs in patients with benign prostate hyperplasia (BPH. The aim of the study was to investigate the frequency of nocturia in patients with BPH. Nocturia and other factors associated with it were also investigated. Methods. Forty patients with the confirmed diagnosis of BPH were studied. Transurethral and transvesical prostatectomy were performed in all the patients. Symptoms were evaluated with the International Prostate Symptom Score before, as well as three and six months after the surgery. All the results were compared with the control group. Results. There was no statistically significant difference between the patients before and after the surgery regarding nocturia. There was, however, a statistically significant difference between the operated patients and the control group regarding nocturia, as well as a statistically significant correlation between noctruia and the age of the patients in both the investigated and the control group. A correlation also existed between nocturia and the prostatic size. Conclusion. There was no statistically significant improvement in symptoms of nocturia after the surgery. It is necessary to be very careful in decision making in patients with nonabsolute indiction for surgery and isolated bothersome symptom of nocturia. Age of a patient should also be considered in the evaluation of favorable result of the surgery because of a significant correlation between noctura and the age of a patient.

  14. Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients

    Directory of Open Access Journals (Sweden)

    Danielidis Ioannis

    2005-04-01

    Full Text Available Abstract Background Familial Adenomatous Polyposis (FAP is caused by germline mutations in the APC (Adenomatous Polyposis Coli gene. The vast majority of APC mutations are point mutations or small insertions / deletions which lead to truncated protein products. Splicing mutations or gross genomic rearrangements are less common inactivating events of the APC gene. Methods In the current study genomic DNA or RNA from ten unrelated FAP suspected patients was examined for germline mutations in the APC gene. Family history and phenotype were used in order to select the patients. Methods used for testing were dHPLC (denaturing High Performance Liquid Chromatography, sequencing, MLPA (Multiplex Ligation – dependent Probe Amplification, Karyotyping, FISH (Fluorescence In Situ Hybridization and RT-PCR (Reverse Transcription – Polymerase Chain Reaction. Results A 250 Kbp deletion in the APC gene starting from intron 5 and extending beyond exon 15 was identified in one patient. A substitution of the +5 conserved nucleotide at the splice donor site of intron 9 in the APC gene was shown to produce frameshift and inefficient exon skipping in a second patient. Four frameshift mutations (1577insT, 1973delAG, 3180delAAAA, 3212delA and a nonsense mutation (C1690T were identified in the rest of the patients. Conclusion Screening for APC mutations in FAP patients should include testing for splicing defects and gross genomic alterations.

  15. Pulmonary sclerosing hemangioma detected by fluorodeoxyglucose positron emission tomography in familial adenomatous polyposis: report of a case.

    NARCIS (Netherlands)

    Koning, D.B. de; Drenth, J.P.H.; Oyen, W.J.G.; Wagenaar, M.; Aliredjo, R.P.; Nagengast, F.M.

    2007-01-01

    We present a 53-year-old female suffering from familial adenomatous polyposis, who was found to have a positive nodus, lateral to the hilus of the left lung, on routine FDG-PET scan. This lesion was found to be a sclerosing hemangioma. We found an aberrant beta-catenin expression on immunohistochemi

  16. Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis : a multicentre, randomized controlled trial

    NARCIS (Netherlands)

    van Heumen, Bjorn W. H.; Roelofs, Hennie M. J.; Vink-Borger, M. Elisa; Dekker, Evelien; Mathus-Vliegen, Elisabeth M. H.; Dees, Jan; Koornstra, Jan J.; Langers, Alexandra M. J.; Nagtegaal, Iris D.; Kampman, Ellen; Peters, Wilbert H. M.; Nagengast, Fokko M.

    2013-01-01

    Background: Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis (FAP) has changed, with duodenal cancer currently being the main cause of death. Although celecoxib reduces duodenal polyp density in patients with FAP, its long-term use may increase the risk of car

  17. Ursodeoxycholic acid counteracts celecoxib in reduction of duodenal polyps in patients with familial adenomatous polyposis: a multicentre, randomized controlled trial

    NARCIS (Netherlands)

    Heumen, van B.W.; Roelofs, H.M.J.; Vink-Börger, M.E.; Dekker, E.; Mathus-Vliegen, E.M.; Dees, J.; Koornstra, J.J.; Langers, A.M.; Nagtegaal, I.D.; Kampman, E.; Peters, W.H.; Nagengast, F.M.

    2013-01-01

    Background Due to prophylactic colectomy, mortality in patients with familial adenomatous polyposis (FAP) has changed, with duodenal cancer currently being the main cause of death. Although celecoxib reduces duodenal polyp density in patients with FAP, its long-term use may increase the risk of card

  18. Pancreas-preserving total duodenectomy versus standard pancreatoduodenectomy for patients with familial adenomatous polyposis and polyps in the duodenum.

    NARCIS (Netherlands)

    Castro, SM de; Eijck, CH van; Rutten, J.P.; Dejong, C.H.; Goor, H. van; Busch, O.R.; Gouma, D.J.

    2008-01-01

    BACKGROUND: Pancreas-preserving total duodenectomy (PPTD) was introduced as a replacement for pancreatoduodenectomy (PD) for familial adenomatous polyposis (FAP). This study analysed the results of PPTD in the Netherlands and reviewed the relevant literature. METHODS: All 26 patients who underwent P

  19. EPITHELIAL-CELL PROLIFERATION IN THE SIGMOID COLON OF PATIENTS WITH ADENOMATOUS POLYPS INCREASES DURING ORAL CALCIUM SUPPLEMENTATION

    NARCIS (Netherlands)

    KLEIBEUKER, JH; WELBERG, JWM; MULDER, NH; VANDERMEER, R; CATS, A; LIMBURG, AJ; KREUMER, WMT; HARDONK, MJ; DEVRIES, EGE

    1993-01-01

    To study the effect of oral supplemental calcium on colonic epithelial proliferation, 17 adenomatous polyp patients received 1.5 g Ca2+ as calcium carbonate daily during 12 weeks, while on a calcium constant diet, based on the patients' habitual diet. Seven subsequently continued calcium supplementa

  20. Pulmonary sclerosing hemangioma detected by fluorodeoxyglucose positron emission tomography in familial adenomatous polyposis: report of a case.

    NARCIS (Netherlands)

    Koning, D.B. de; Drenth, J.P.H.; Oyen, W.J.G.; Wagenaar, M.; Aliredjo, R.P.; Nagengast, F.M.

    2007-01-01

    We present a 53-year-old female suffering from familial adenomatous polyposis, who was found to have a positive nodus, lateral to the hilus of the left lung, on routine FDG-PET scan. This lesion was found to be a sclerosing hemangioma. We found an aberrant beta-catenin expression on

  1. Brunner's gland hyperplasia in the sand rat (Psammomys obesus).

    Science.gov (United States)

    Steinbach, T J; Kane, J D

    2013-07-01

    Brunner's glands are submucosal glands located in the proximal duodenum. Hyperplasia of the Brunner's gland has been reported rarely in humans and animals. We examined sections of the Brunner's gland from 63 sand rats submitted for necropsy over 2 years. Of the 63 animals necropsied, 45 (71%) had evidence of hyperplasia defined as nodular expansion, dilated ducts, or intraductal papillary proliferation. The hyperplasia was graded as mild in 22 (49%) of the cases, moderate in 15 (33%), and marked in 8 (18%). We found an association with both increased age and evidence of gastric ulceration and hyperplasia of the Brunner's gland. In sand rats with marked hyperplasia, 8 of 8 (100%) had evidence of gastric ulceration, compared to 13 of 18 (72%) in animals with no hyperplasia. Animals with marked hyperplasia were, on average, 8.4 months older than animals with no hyperplasia. There was no association with gender. The lesion in sand rats is histologically similar to that in humans.

  2. What Are the Treatments for Congenital Adrenal Hyperplasia (CAH)?

    Science.gov (United States)

    ... Publications What are the treatments for congenital adrenal hyperplasia (CAH)? Skip sharing on social media links Share ... sees many CAH cases. 6 The Congenital Adrenal Hyperplasia Research, Education & Support (CARES) Foundation strongly recommends delaying ...

  3. Neoplasia versus hyperplasia of the retinal pigment epithelium

    DEFF Research Database (Denmark)

    Heegaard, Steffen; Larsen, J.N.B.; Fledelius, Hans C.

    2001-01-01

    ophthalmology, retinal pigment epithelium, adenoma, tumor-like hyperplasia, histology, immunohistochemistry, tumor, neoplasm, ultrasonography......ophthalmology, retinal pigment epithelium, adenoma, tumor-like hyperplasia, histology, immunohistochemistry, tumor, neoplasm, ultrasonography...

  4. Extensive Focal Epithelial Hyperplasia: A Case Report

    OpenAIRE

    Mansouri, Zahra; Bakhtiari, Sedigheh; Noormohamadi, Robab

    2015-01-01

    Focal epithelial hyperplasia (FEH) or Heck’s disease is a rare viral infection of the oral mucosa caused by human papilloma virus especially subtypes 13 or 32. The frequency of this disease varies widely from one geographic region and ethnic groups to another. This paper reports an Iranian case of extensive focal epithelial hyperplasia. A 35-year-old man with FEH is described, in whom the lesions had persisted for more than 25 years. The lesion was diagnosed according to both clinical and his...

  5. Extensive Focal Epithelial Hyperplasia: A Case Report.

    Science.gov (United States)

    Mansouri, Zahra; Bakhtiari, Sedigheh; Noormohamadi, Robab

    2015-01-01

    Focal epithelial hyperplasia (FEH) or Heck's disease is a rare viral infection of the oral mucosa caused by human papilloma virus especially subtypes 13 or 32. The frequency of this disease varies widely from one geographic region and ethnic groups to another. This paper reports an Iranian case of extensive focal epithelial hyperplasia. A 35-year-old man with FEH is described, in whom the lesions had persisted for more than 25 years. The lesion was diagnosed according to both clinical and histopathological features. Dental practitioner should be aware of these types of lesions and histopathological examination together and a careful clinical observation should be carried out for a definitive diagnosis.

  6. Pseudoepitheliomatous Hyperplasia in a Red Pigment Tattoo

    Science.gov (United States)

    Kazlouskaya, Viktoryia

    2015-01-01

    Red pigment tattoos are known to cause pseudoepitheliomatous hyperplasia in the skin, frequently simulating squamous cell carcinoma or keratoacanthoma. Herein, the authors present two additional cases of red pigment tattoo pseudoepitheliomatous hyperplasia in which they noted a lichenoid tissue reaction. They reviewed the previously published cases and observed a lichenoid reaction in the histopathological images similar to hypertrophic lichen planus. The authors suggest that these reactions might best be referred to as “lichenoid reaction with pseudoepitheliomatous hyperplasia” or “hypertrophic lichen planus-like reaction.” Accordingly, recognition of an inflammatory component may allow additional treatment options. PMID:26705448

  7. Hemorrhagc focal nodular hyperplasia in young men: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jin Hyun; Kwon, Hee Jin; Cho, Jin Han; Oh, Jong Yeong; Nam, Kyung Jin; Roh, Young Hoon; Jeong, Jin Sook [College of Medicine, Dong-A University, Busan (Korea, Republic of)

    2014-04-15

    In general, focal nodular hyperplasia is a hepatic lesion that most frequently affects the healthy women of reproductive age. Focal nodular hyperplasia lesions have a benign natural course; the majority of the cases remain asymptomatic and complications are rare. Spontaneous hemorrhage of focal nodular hyperplasia is a rare disease, and the hemorrhage in young men is even more uncommon. We report a rare case of spontaneous hemorrhage of focal nodular hyperplasia in a 19-year-old man.

  8. Clinical Progress on Acupuncture Treatment of Prostatic Hyperplasia

    Institute of Scientific and Technical Information of China (English)

    李丽会; 张淑静; 徐名一; 黄国琪

    2009-01-01

    @@ Prostatic hyperplasia, also termed benign prostatic hyperplasia (BPH), is a commonly encountered disease in middle-aged and old males. This condition is known as "Retention of Urine" and "Urination Syndrome" in Chinese medicine. Now, the literature from 1998 to 2008 on acupuncture treatment of prostatic hyperplasia are abstracted and reviewed, in order to understand the clinical status of acupuncture treatment for this disease.

  9. Primary extradural meningioma arising from the calvarium

    Directory of Open Access Journals (Sweden)

    N Ravi

    2013-06-01

    Full Text Available Meningiomas are the most common intracranial tumours. Meningiomas arising at other locations are termed primary extradural meningiomas (EDM and are rare. Here we report a case of EDM arising from the calvarium – a primary calvarial meningioma (PCM.

  10. Delusional Disorder Arising From a CNS Neoplasm.

    Science.gov (United States)

    Stupinski, John; Kim, Jihye; Francois, Dimitry

    2017-01-01

    Erotomania arising from a central nervous system (CNS) neoplasm has not been previously described. Here, we present the first known case, to our knowledge, of erotomania with associated persecutory delusions arising following diagnosis and treatment of a left frontal lobe brain tumor.

  11. Tumour Suppressor Adenomatous Polyposis Coli (APC) localisation is regulated by both Kinesin-1 and Kinesin-2

    Science.gov (United States)

    Ruane, Peter T.; Gumy, Laura F.; Bola, Becky; Anderson, Beverley; Wozniak, Marcin J.; Hoogenraad, Casper C.; Allan, Victoria J.

    2016-01-01

    Microtubules and their associated proteins (MAPs) underpin the polarity of specialised cells. Adenomatous polyposis coli (APC) is one such MAP with a multifunctional agenda that requires precise intracellular localisations. Although APC has been found to associate with kinesin-2 subfamily members, the exact mechanism for the peripheral localization of APC remains unclear. Here we show that the heavy chain of kinesin-1 directly interacts with the APC C-terminus, contributing to the peripheral localisation of APC in fibroblasts. In rat hippocampal neurons the kinesin-1 binding domain of APC is required for its axon tip enrichment. Moreover, we demonstrate that APC requires interactions with both kinesin-2 and kinesin-1 for this localisation. Underlining the importance of the kinesin-1 association, neurons expressing APC lacking kinesin-1-binding domain have shorter axons. The identification of this novel kinesin-1-APC interaction highlights the complexity and significance of APC localisation in neurons. PMID:27272132

  12. Selective targeting of mutant adenomatous polyposis coli (APC) in colorectal cancer.

    Science.gov (United States)

    Zhang, Lu; Theodoropoulos, Panayotis C; Eskiocak, Ugur; Wang, Wentian; Moon, Young-Ah; Posner, Bruce; Williams, Noelle S; Wright, Woodring E; Kim, Sang Bum; Nijhawan, Deepak; De Brabander, Jef K; Shay, Jerry W

    2016-10-19

    Mutations in the adenomatous polyposis coli (APC) gene are common in colorectal cancer (CRC), and more than 90% of those mutations generate stable truncated gene products. We describe a chemical screen using normal human colonic epithelial cells (HCECs) and a series of oncogenically progressed HCECs containing a truncated APC protein. With this screen, we identified a small molecule, TASIN-1 (truncated APC selective inhibitor-1), that specifically kills cells with APC truncations but spares normal and cancer cells with wild-type APC. TASIN-1 exerts its cytotoxic effects through inhibition of cholesterol biosynthesis. In vivo administration of TASIN-1 inhibits tumor growth of CRC cells with truncated APC but not APC wild-type CRC cells in xenograft models and in a genetically engineered CRC mouse model with minimal toxicity. TASIN-1 represents a potential therapeutic strategy for prevention and intervention in CRC with mutant APC.

  13. Evidence for a novel exon in the coding region of the adenomatous polyposis coli (APC) gene

    Energy Technology Data Exchange (ETDEWEB)

    Xia, Ling; St. Denis, K.A.; Bapat, B. [Univ. of Toronto (Canada)

    1995-08-10

    Germline mutations of the tumor suppressor gene APC cause familial adenomatous polyposis. Somatic APC alterations are involved in several sporadic neoplasma, including colorectal, duodenal, gastric, and esophageal carcinoma. The APC mRNA is encoded by 15 exons. Additional transcripts have been reported, due to alternative splicing of coding as well as noncoding regions. Two mRNA isoforms occur due to a deletion of exon 7 or a partial deletion of exon 9. We have identified a novel exon, flanked by APC exons 10 and 11, which is expressed as an alternatively transcribed product of the gene. Further, we have shown that the novel exon consists of a heptad repeat motif and is conserved across species. 18 refs., 2 figs.

  14. Dento-osseous anomalies associated to familial adenomatous polyposis mimicking florid cemento-osseous dysplasia.

    Science.gov (United States)

    Almeida, Fabiana Tolentino; Leite, André Ferreira; de Souza Figueiredo, Paulo Tadeu; Melo, Nilce Santos; Sousa, João Batista; Almeida, Rômulo; Acevedo, Ana Carolina; Silva Guerra, Eliete Neves

    2012-12-01

    Familial adenomatous polyposis (FAP) is a colorectal cancer syndrome characterized by the development of multiple polyps of the colon and rectum with high risk of malignant transformation. The extraintestinal manifestations such as dento-osseous changes are associated with FAP. This is a case report of a 36-year-old female patient who was referred for dental treatment with the initial diagnosis of florid cemento-osseous dysplasia (FCOD). However, the association of the imaging dento-osseous findings with the medical history confirmed the diagnosis of FAP. The paper illustrates the clinical characteristics and imaging findings associated with FAP, and also discusses misdiagnosis based exclusively on imaging features. Copyright © 2012 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  15. Familial Adenomatous Polyposis (FAP):Genotype Correlation to FAP Phenotype With Osteomas and Sebaceous Cysts

    DEFF Research Database (Denmark)

    Bisgaard, Marie Luise; Bülow, Steffen

    2006-01-01

    and familial adenomatous polyposis (FAP). The present study aimed at examining whether a particular APC genotype could be delineated in FAP patients with benign extracolonic manifestations: sebaceous cysts and/or osteomas. A questionnaire was sent to all Danish FAP patients (N = 234) asking for occurrence...... of sebaceous cysts and palpable osteomas. Medical records later verified positive findings, when possible. The results for each patient were correlated to the position of his or her mutation in the APC gene. Positive participation compliance was 77% (N = 180), and in 105 of these patients the pathogenic APC...... mutation was known. Palpable osteomas were reported in 17 of the patients in whom a pathogenic mutation had been identified. Osteomas were only identified in patients with mutations between codon 767 and 1513, a gene area also associated with congenital hypertrophy of the retinal-pigmented epithelium...

  16. Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts

    DEFF Research Database (Denmark)

    Bisgaard, Marie Luise; Bülow, Steffen

    2006-01-01

    and familial adenomatous polyposis (FAP). The present study aimed at examining whether a particular APC genotype could be delineated in FAP patients with benign extracolonic manifestations: sebaceous cysts and/or osteomas. A questionnaire was sent to all Danish FAP patients (N = 234) asking for occurrence...... of sebaceous cysts and palpable osteomas. Medical records later verified positive findings, when possible. The results for each patient were correlated to the position of his or her mutation in the APC gene. Positive participation compliance was 77% (N = 180), and in 105 of these patients the pathogenic APC...... mutation was known. Palpable osteomas were reported in 17 of the patients in whom a pathogenic mutation had been identified. Osteomas were only identified in patients with mutations between codon 767 and 1513, a gene area also associated with congenital hypertrophy of the retinal-pigmented epithelium...

  17. Attenuated Familial Adenomatous Polyposis (AFAP) Results from an international collaborative study

    DEFF Research Database (Denmark)

    Knudsen, A L; Bülow, S; Tomlinson, I

    2010-01-01

    Abstract Aim. The study aimed to describe genetical and clinical features of Attenuated Familial Adenomatous Polyposis (AFAP) and to propose clinical criteria and guidelines for treatment and surveillance. Method. A questionnaire study was carried out of polyposis registries with data on patients...... patients had a colectomy and an ileorectal anastomosis (IRA) and 5/82 (6%) had a secondary proctectomy. The location of the mutation in the APC gene was known in 69/171 (40%) tested patients. Only 15/29 (52%) of mutations in APC were found in parts of the gene usually associated with AFAP (the 5' end, exon...... 9 and 3' end). Conclusions. A subset of FAP patients with a milder phenotype does exist and treatment and surveillance should be modified accordingly. The mutation detection rate is lower than in classic FAP and mutations in AFAP patients are located throughout the APC gene. We propose the following...

  18. Predictive gene signatures: molecular markers distinguishing colon adenomatous polyp and carcinoma.

    Science.gov (United States)

    Drew, Janice E; Farquharson, Andrew J; Mayer, Claus Dieter; Vase, Hollie F; Coates, Philip J; Steele, Robert J; Carey, Francis A

    2014-01-01

    Cancers exhibit abnormal molecular signatures associated with disease initiation and progression. Molecular signatures could improve cancer screening, detection, drug development and selection of appropriate drug therapies for individual patients. Typically only very small amounts of tissue are available from patients for analysis and biopsy samples exhibit broad heterogeneity that cannot be captured using a single marker. This report details application of an in-house custom designed GenomeLab System multiplex gene expression assay, the hCellMarkerPlex, to assess predictive gene signatures of normal, adenomatous polyp and carcinoma colon tissue using archived tissue bank material. The hCellMarkerPlex incorporates twenty-one gene markers: epithelial (EZR, KRT18, NOX1, SLC9A2), proliferation (PCNA, CCND1, MS4A12), differentiation (B4GANLT2, CDX1, CDX2), apoptotic (CASP3, NOX1, NTN1), fibroblast (FSP1, COL1A1), structural (ACTG2, CNN1, DES), gene transcription (HDAC1), stem cell (LGR5), endothelial (VWF) and mucin production (MUC2). Gene signatures distinguished normal, adenomatous polyp and carcinoma. Individual gene targets significantly contributing to molecular tissue types, classifier genes, were further characterised using real-time PCR, in-situ hybridisation and immunohistochemistry revealing aberrant epithelial expression of MS4A12, LGR5 CDX2, NOX1 and SLC9A2 prior to development of carcinoma. Identified gene signatures identify aberrant epithelial expression of genes prior to cancer development using in-house custom designed gene expression multiplex assays. This approach may be used to assist in objective classification of disease initiation, staging, progression and therapeutic responses using biopsy material.

  19. Predictive gene signatures: molecular markers distinguishing colon adenomatous polyp and carcinoma.

    Directory of Open Access Journals (Sweden)

    Janice E Drew

    Full Text Available Cancers exhibit abnormal molecular signatures associated with disease initiation and progression. Molecular signatures could improve cancer screening, detection, drug development and selection of appropriate drug therapies for individual patients. Typically only very small amounts of tissue are available from patients for analysis and biopsy samples exhibit broad heterogeneity that cannot be captured using a single marker. This report details application of an in-house custom designed GenomeLab System multiplex gene expression assay, the hCellMarkerPlex, to assess predictive gene signatures of normal, adenomatous polyp and carcinoma colon tissue using archived tissue bank material. The hCellMarkerPlex incorporates twenty-one gene markers: epithelial (EZR, KRT18, NOX1, SLC9A2, proliferation (PCNA, CCND1, MS4A12, differentiation (B4GANLT2, CDX1, CDX2, apoptotic (CASP3, NOX1, NTN1, fibroblast (FSP1, COL1A1, structural (ACTG2, CNN1, DES, gene transcription (HDAC1, stem cell (LGR5, endothelial (VWF and mucin production (MUC2. Gene signatures distinguished normal, adenomatous polyp and carcinoma. Individual gene targets significantly contributing to molecular tissue types, classifier genes, were further characterised using real-time PCR, in-situ hybridisation and immunohistochemistry revealing aberrant epithelial expression of MS4A12, LGR5 CDX2, NOX1 and SLC9A2 prior to development of carcinoma. Identified gene signatures identify aberrant epithelial expression of genes prior to cancer development using in-house custom designed gene expression multiplex assays. This approach may be used to assist in objective classification of disease initiation, staging, progression and therapeutic responses using biopsy material.

  20. Pouch Salvage Surgery for Treatment of Colitis and Familial Adenomatous Polyposis: Report of Five Cases

    Directory of Open Access Journals (Sweden)

    Derakhshani

    2016-08-01

    Full Text Available Introduction The restorative proctocolectomy (RPC with ileal pouch-anal anastomosis (IPAA is currently the preferred surgical method for most patients with ulcerative colitis and familial adenomatous polyposis and sometimes, functional bowel diseases. Infection around the pouch, remaining rectal stump, stricture at anastomosis site, pouch dysfunction and refractory pouchitis can lead to pouch failure. Pouch salvage surgery could prevent pouch failure in some cases. Case Presentation In this report, five patients were introduced, who underwent pouch salvage surgery after RPC/IPAA surgery failure. Two of the patients were male and three were female and the relevant age range was 16 to 41. Initially, RPC/IPAA surgery was performed on these five patients. Four of the patients underwent RPC/IPAA surgery as a result of ulcerative colitis and, one of the patients as a result of familial adenomatous polyposis. However, due to pouch failure from the RPC/IPAA surgery, pouch-salvage surgery was performed on each of these five patients. Two of the patients underwent pouch-salvage surgery due to infection and pouch fistula, and the other three underwent this surgery due to the remaining rectal stump, anastomosis stenosis and pouch dysfunction. The average time for when pouch-salvage surgery was performed was 3.5 years (three months to five years after the initial operation and the patients were under follow-up care for two to seven years. Conclusions After performing pouch salvage operation, pouch function was acceptable in all patients and we could close ileostomies of all of them.

  1. Urodynamic implications of benign prostatic hyperplasia

    DEFF Research Database (Denmark)

    Jensen, K M; Andersen, J T

    1990-01-01

    By the age of 60, about 70% of men have developed benign prostatic hyperplasia (BPH), and 85%-95% of these have symptomatic dysfunction of the lower urinary tract, 10%-20% undergoing prostatectomy. Although transurethral resection of the prostate is generally considered to be a safe and effective...

  2. [Focal epithelial hyperplasia. An unusual clinical aspect].

    Science.gov (United States)

    Bodokh, I; Lacour, J P; Rainero, C; Orth, G; Perrin, C; Hoffman, P; Santini, J; Ortonne, J P

    1993-01-01

    We report a case of focal epithelial hyperplasia in a child born in France of Algerian parents. The clinical appearance was unusual in that certain lesions were verrucous and pediculate. A virological study revealed the presence of papillomavirus 32, one of the two types of HPV specifically associated with this entity.

  3. Multifocal epithelial hyperplasia. Report of nine cases.

    Science.gov (United States)

    Ledesma-Montes, Constantino; Vega-Memije, Elisa; Garcés-Ortíz, Maricela; Cardiel-Nieves, Maritza; Juárez-Luna, Claudia

    2005-01-01

    Multifocal epithelial hyperplasia (MEH) is also known as focal epithelial hyperplasia, Heck's disease or multifocal papillomavirus-induced epithelial hyperplasia. It is characterised by the presence of multiple lesions in the oral mucosa of children and it has been associated with the presence of the human papillomavirus. The aim of this study was to determine the clinico-pathological features of the cases diagnosed as MEH in the Service of Dermatology of the Hospital Manuel Gea González (SDHMGG). The files of the SDHMGG were reviewed and all cases diagnosed as MEH were retrieved. Nine MEH cases were found. Most of the patients were 20 year-old or younger (67%) and females were more commonly affected (78%). All patients presented multiple lesions and always, close relatives with similar lesions were found. Lesions were located most commonly in the buccal mucosa, lower lip and commissures. MEH is a soft tissue intraoral condition that needs treatment solely of the traumatised lesions or those with cosmetic problems. Remaining lesions will disappear with the age of the patients. It is suggested that this entity should be named multifocal epithelial hyperplasia since this name describes better the clinico-pathological and microscopic features of the disease.

  4. Puberty and fertility in congenital adrenal hyperplasia.

    NARCIS (Netherlands)

    Otten, B.J.; Stikkelbroeck, M.M.L.; Claahsen-van der Grinten, H.L.; Hermus, A.R.M.M.

    2005-01-01

    Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. The symptoms and signs of CAH depend on the degree of enzyme deficiency; severe salt-wasting (SW) form, less severe simple virilizing (SV) form and mild nonclassic (NC) form. In this paper, puberty and fertility in CAH

  5. Sebaceous hyperplasia in neonates and adults

    Directory of Open Access Journals (Sweden)

    Piotr Brzezinski

    2015-01-01

    Full Text Available Sebaceous hyperplasia is a common benign proliferation of the sebaceous glands seen during the first weeks of life and in middle-aged and elderly people. Clinical picture is quite different in neonatal period compared to adulthood. In neonate the lesions are small, tiny yellow papules distributed on the nose [1].

  6. Benign prostatic hyperplasia: symptoms and objective interpretation

    DEFF Research Database (Denmark)

    Andersen, J T

    1991-01-01

    Considerable new knowledge about benign prostatic hyperplasia has been gained over the past two decades, particularly with regard to its natural history, hydrodynamic changes in the lower urinary tract, and the symptomatic and urodynamic results of treatment. A survey of the literature has been u...

  7. Verrucous hyperplasia: A clinico-pathological study.

    Science.gov (United States)

    Hazarey, Vinay K; Ganvir, Sindhu M; Bodhade, Ashish S

    2011-05-01

    Oral verrucous hyperplasia (OVH) is a premalignant lesion that may transform into an oral cancer. The present retrospective study was carried out to analyze the clinico-pathological features of verrucous hyperplasia (VH). Total 19 diagnosed cases of verrucous hyperplasia were retrospectively analyzed for demographic, clinical and histopathological features including dysplasia. Average age of occurrence of lesion was 4 (th) decade of life, with male predominance (2:1) and common site of occurrence being buccal mucosa. Clinically it present as verrucous exophytic growth with sharp or blunt projections on surface, which corresponds histologically. Tobacco lime quid placement in buccal vestibule was key etiologic factor. Histopathologicaly 68% cases showed dysplasia out of which moderate dysplasia predominates (42%). Moderately dysplastic cases were found to be associated with mixed habit pattern. Maximum cases were treated with excision. Biopsy specimen comprising of adjacent normal epithelium is key in distinguishing verrucous hyperplasia from verrucous carcinoma. Clinical behavior and recurrence potential needs to be assessed with long term follow up studies.

  8. Natural history of benign prostate hyperplasia

    Institute of Scientific and Technical Information of China (English)

    WU Shi-liang; LI Ning-chen; XIAO Yun-xiang; JIN Jie; QIU Shao-peng; YE Zhang-qun; KONG Chui-ze; SUN Guang; NA Yan-qun

    2006-01-01

    Background Benign prostate hyperplasia is one of the most common diseases affecting the health of the aging males. Watchful waiting is an acceptable management strategy for benign prostate hyperplasia in which the patient is monitored by the physician but receives no active intervention. The epidemiological data on this are lacking in China. Our study was designed to evaluate the changes of signs and symptoms of patients with benign prostate hyperplasia during management by watchful waiting in China.Methods One hundred and forty-five patients with benign prostate hyperplasia aged > 50 years were enrolled in management by watchful waiting. All the patients were visited every 6 months and were given an International Prostate Symptom Score and Quality of Life questionnaire to complete. They also had uroflowmetry and were assessed using ultrasonography to get the volume of prostate, transition zone and amount of residual urine. The Student's t test, the Chi-square test, and variance analysis were used in the statistical analysis.Results All patients were visited after 6 months, the mean volume of transitional zone was found to haveincreased by 1.6 ml (P<0.01), International Prostate Symptom Score was increased by 0.8 (P<0.01) and Quality of Life was increased by 0.2 (P<0.01), and there was no statistical change in other data. Among these patients,17.9% (26/145) visited again after 12 months when the data failed to show a statistically significant difference among the three groups (0, 6, and 12 months).Conclusions After one year's follow-up, the progression of benign prostate hyperplasia was slow and the clinical data did not undergo much change.

  9. Thermal coagulation-induced changes of the optical properties of normal and adenomatous human colon tissues in vitro in the spectral range 400-1100 nm

    Energy Technology Data Exchange (ETDEWEB)

    Ao Huilan; Xing Da; Wei Huajiang; Gu Huaimin [MOE Key Laboratory of Laser Life Science and Institute of Laser Life Science, ina Normal University, Guangzhou 510631 (China); Wu Guoyong; Lu Jianjun [Department of Surgery, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510080 (China)], E-mail: xingda@scnu.edu.cn

    2008-04-21

    The absorption coefficients, the reduced scattering coefficients and the optical penetration depths for native and coagulated human normal and adenomatous colon tissues in vitro were determined over the range of 400-1100 nm using a spectrophotometer with an internal integrating sphere system, and the inverse adding-doubling method was applied to calculate the tissue optical properties from diffuse reflectance and total transmittance measurements. The experimental results showed that in the range of 400-1100 nm there were larger absorption coefficients (P < 0.01) and smaller reduced scattering coefficients (P < 0.01) for adenomatous colon tissues than for normal colon tissues, and there were smaller optical penetration depths for adenomatous colon tissues than for normal colon tissues, especially in the near-infrared wavelength. Thermal coagulation induced significant increase of the absorption coefficients and reduced scattering coefficients for the normal and adenomatous colon tissues, and significantly reduced decrease of the optical penetration depths for the normal and adenomatous colon tissues. The smaller optical penetration depth for coagulated adenomatous colon tissues is a disadvantage for laser-induced thermotherapy (LITT) and photodynamic therapy (PDT). It is necessary to adjust the application parameters of lasers to achieve optimal therapy.

  10. Synchronous melanomas arising within nevus spilus*

    Science.gov (United States)

    de Brito, Maria Helena Toda Sanches; Dionísio, Cecília Silva Nunes de Moura; Fernandes, Cândida Margarida Branco Martins; Ferreira, Joana Cintia Monteiro; Rosa, Maria Joaninha Madalena de Palma Mendonça da Costa; Garcia, Maria Manuela Antunes Pecegueiro da Silva

    2017-01-01

    Nevus spilus is a melanocytic cutaneous lesion consisting of a light brown background macule with numerous superimposed darker maculopapular speckles. Melanoma arising from a nevus spilus is rare, with less than 40 cases reported to date. The absolute risk for malignant transformation is not well defined, lacking a standardized management approach. We report a new case of melanoma arising from nevus spilus, with the additional peculiarity of multifocality. We offer our recommendations for the management of the condition. PMID:28225967

  11. Intravascular Papillary Endothelial Hyperplasia (Masson’s Tumor): Diagnosis the Plastic Surgeon Should Be Aware of

    Science.gov (United States)

    Boukovalas, Stefanos; Dillard, Rachel; Qiu, Suimin

    2017-01-01

    Summary: Intravascular papillary endothelial hyperplasia (IPEH) or Masson’s tumor is a rare benign entity commonly found on the head, neck, and upper extremities. It usually arises within a blood vessel but is considered to be a nonneoplastic reactive process often associated with vascular injury. Typically, IPEHs cause no symptoms and present as slowly growing soft-tissue masses. Given their prevalent location and indolent clinical presentation, the plastic surgeon should be familiar with this rare entity. We are presenting a case of IPEH of the forehead with unusual clinical and pathologic characteristics. Differential diagnosis, special considerations regarding preoperative work-up, and treatment options are discussed.

  12. Angiolymphoid hyperplasia with eosinophilia presenting multinucleated cells in histology: an ultrastructural study.

    Science.gov (United States)

    Sakamoto, F; Hashimoto, T; Takenouchi, T; Ito, M; Nitto, H

    1998-07-01

    A case of angiolymphoid hyperplasia with eosinophilia arising on the face of a woman is reported. Histologically, the uniqueness of this case is the presence of multinucleated cells (MNCs), besides the conventional dermal changes. Electron microscopy showed that some of the apparent MNCs are clusters of endothelial cells forming immature vascular lumens with numerous microvilli, and the other MNCs displayed the recognized features of fibrohistiocytic or myofibroblastic cells. Immunohistochemically, some MNCs were positive for Ulex europaeus agglutinin and Factor VIII-related antigen. From these findings, some of the MNCs are histologically endothelial sprouts, and the others are fibrohistiocytic cells in the present case.

  13. Importance of the surrounding colonic mucosa in distinguishing between hyperplastic and adenomatous polyps during acetic acid chromoendoscopy

    Institute of Scientific and Technical Information of China (English)

    Jeong Hwan Kim; Sun-Young Lee; Byung Kook Kim; Won Hyeok Choe; So Young Kwon; In-Kyung Sung; Hyung-Seok Park; Choon-Jo Jin

    2008-01-01

    AIM: To examine the characteristics of colonic polyps, where it is difficult to distinguish adenomatous polyps from hyperplastic polyps, with the aid of acetic acid chromoendoscopy.METHODS: Acetic acid spray was applied to colonic polyps smaller than 10 mm before complete excision. Endoscopic images were taken before and 15-30 s after the acetic acid spray. Both pre- and post-sprayed images were shown to 16 examiners, who were asked to interpret the lesions as either hyperplastic or adenomatous polyps. Regression analysis was performed to determine which factors were most likely related to diagnostic accuracy.RESULTS: In 50 cases tested by the 16 examiners, the overall accuracy was 62.4% (499/800). Regression analysis demonstrated that surrounding colonic mucosa was the only factor that was significantly related to accuracy in discriminating adenomatous from hyperplastic polyps (P < 0.001). Accuracy was higher for polyps with linear surrounding colonic mucosa than for those with nodular surrounding colonic mucosa (P < 0.001), but was not related to the shape, location, or size of the polyp.CONCLUSION: The accuracy of predicting histology is significantly related to the pattern of colonic mucosa surrounding the polyp. Making a histological diagnosis of colon polyps merely by acetic acid spray is helpful for colon polyps with linear, regularly patterned surrounding colonic mucosa, and less so for those with nodular, irregularly patterned surrounding colonic mucosa.

  14. Myocardial hypertrophy induces carotid body hyperplasia.

    Science.gov (United States)

    Sivridis, Efthimios; Pavlidis, Pavlos; Fiska, Aliki; Pitsiava, Dimitra; Giatromanolaki, Alexandra

    2011-01-01

    The carotid bodies tend to enlarge after long-standing cardiopulmonary disease. Our objective was to investigate whether cardiac hypertrophy is associated with carotid body hyperplasia. Fifteen autopsy cases with combined left and right ventricular hypertrophy were examined and compared with two control groups (16 cases). The study involved a meticulous dissection of carotid bifurcations, thin serial sections, and morphometric analysis of carotid body volume and cell types (progenitor, dark, light, and sustentacular). There was a significant increase in sustentacular cells in all individuals with cardiac hypertrophy, which was not drug-induced, and accompanied by a similar increase in carotid body volume. Dark or light cell accumulation was detected focally and only in three instances. It appears that the generalized sustentacular cell hyperplasia is the result of long-standing hypoxia, while a superimposed focal prominence of dark or light cells may be proliferative or metaplastic in nature and attributed to short-term hypoxia.

  15. Mandibular coronoid hyperplasia in pediatric patients.

    Science.gov (United States)

    Jaskolka, Michael S; Eppley, Barry L; van Aalst, John A

    2007-07-01

    Bilateral coronoid hyperplasia is a relatively rare condition in the pediatric population and yet may be an unrecognized cause of limited mouth opening in children. There are multiple theories as to the causes of the hyperplasia, which include temporalis hyperactivity, hormonal stimulus, and genetic inheritance. The resulting excess growth of the coronoids results in impingement on the zygomatic processes leading to mandibular hypomobility. The diagnosis is confirmed with plain films and computed tomography scans. Treatment involves bilateral coronoidectomies to relieve impingement on the zygoma. Postoperative physical therapy is crucial for success; the therapy focuses on maintaining the mouth opening achieved at the time of surgery. Outcome reports have been variable despite good physical therapy, suggesting that the exact pathology of the condition is not well understood.

  16. Unilateral condylar hyperplasia: a treatment strategy.

    Science.gov (United States)

    Ferreira, Sabrina; da Silva Fabris, André Luis; Ferreira, Gabriel Ramalho; Faverani, Leonardo Perez; Francisconi, Giovanna Barbosa; Souza, Francisley Avila; Garcia, Idelmo Rangel

    2014-05-01

    Condylar hyperplasia (CH) is a pathologic condition that causes overdevelopment of the condylar head and neck as well as the mandible. Slowly progressive unilateral enlargement of the head and the neck of the condyle causes crossbite malocclusion, facial asymmetry, and shifting of the midpoint of the chin to the unaffected side. The etiology and the pathogenesis of CH remain uncertain. The diagnosis is made by clinical and radiologic examinations and bone scintigraph. A difference in uptake of 10% or more between condyles is regarded as indicative of CH, and the affected condyles had a relative uptake of 55% or more. When the diagnosis of active CH is established, the treatment consists of removal of the growth center by a partial condylectomy. The authors present the case of a 46-year-old male patient with right active type II CH or hemimandibular hyperplasia who underwent a high condylectomy.

  17. Epidemiology of clinical benign prostatic hyperplasia

    Directory of Open Access Journals (Sweden)

    Kok Bin Lim

    2017-07-01

    Full Text Available Clinical benign prostatic hyperplasia (BPH is one of the most common diseases in ageing men and the most common cause of lower urinary tract symptoms (LUTS. The prevalence of BPH increases after the age of 40 years, with a prevalence of 8%–60% at age 90 years. Some data have suggested that there is decreased risk among the Asians compared to the western white population. Genetics, diet and life style may play a role here. Recent reports suggest the strong relationship of clinical BPH with metabolic syndrome and erectile dysfunction, as well as the possible role of inflammation as a cause of the prostatic hyperplasia. Lifestyle changes including exercise and diet are important strategies in controlling this common ailment.

  18. Endometrial Stromal Hyperplasia: An Underrecognized Condition

    OpenAIRE

    Efthimios Sivridis; Gerasimos Koutsougeras; Alexandra Giatromanolaki

    2013-01-01

    Hyperplasia of the endometrial stroma is a poorly recognized lesion, lacking widespread recognition with most, if not all, such cases sequestrated in the literature as endometrial stromal nodules or low-grade endometrial stromal sarcomas. In this paper, we describe three examples of “endometrial stromal hyperplasia” which have a remarkable morphological similarity with the normally proliferating endometrial stroma and the endometrial stromal neoplasms, but which also possess subtle, but suffi...

  19. Pseudoepitheliomatous hyperplasia: A review of oral lesions

    Directory of Open Access Journals (Sweden)

    P. Premraj

    2016-05-01

    Full Text Available Pseudoepitheliomatous hyperplasia is a histological reactive pattern of surface epithelium in response to various stimuli from the underlying connective tissue which frequently mimics squamous cell carcinoma. So, differentiation of this entity is of utmost important in the view of treatment planning and approach. This review focuses on those lesions which are encountered in the head and neck region and also the recent concepts related to it.

  20. Classic congenital adrenal hyperplasia: A delayed presentation

    OpenAIRE

    Aziz Siddiqui, Saima; Soomro, Nargis; Ganatra, Ashraf

    2013-01-01

    Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infant life as salt losing or simple virilizing type, whereas non classic form presents late at puberty or in adult life. Depending on the type of classic CAH, type of adrenocorticoid deficiency, exten...

  1. FOCAL EPITHELIAL HYPERPLASIA: HECK’S DISEASE

    OpenAIRE

    Brzeziński Piotr

    2010-01-01

    Heck's disease (focal epithelial hyperplasia) (FEH) is clinically characterized by multiple circumscribed, soft elevated nodules of the oral mucosa. Papules and plaques are usually the color of normal mucosa, but may be pale or, rarely, white. Disease may persist for years, producing a significant reduction in quality of life. Lessions may be located in the area of mucous membranes of the lips, cheeks and tongue. It is believed that the two virus types are responsible for the FEH, are: HPV 1...

  2. Extensive focal epithelial hyperplasia: case report.

    Science.gov (United States)

    Durso, Braz Campos; Pinto, José Marcelo Vargas; Jorge, Jacks; de Almeida, Oslei Paes

    2005-11-01

    Focal epithelial hyperplasia (FEH) is a rare benign lesion caused by human papillomavirus subtype 13 or 32. The condition occurs in numerous populations and ethnic groups. A higher incidence in close communities and among family members indicates infectious pathogenesis. A 21-year-old woman with FEH is described, in whom the lesions had persisted for 10 years. A literature review is also presented, with emphasis on manifestations in the oral mucosa and histopathological features.

  3. Focal epithelial hyperplasia in a Turkish family.

    Science.gov (United States)

    Gökahmetoğlu, Selma; Ferahbaş, Ayten; Canöz, Özlem

    2014-12-01

    Focal epithelial hyperplasia (FEH) is a benign proliferative condition that is more frequently found in children of certain ethnic groups. Human papillomavirus (HPV) 13 and 32 genotypes has been consistently detected in these lesions. In this study a daughter, mother and father had FEH, and HPV 13 was shown by sequence analysis in the lesions of these patients. Cryotherapy was applied to the lesions and the lesions improved, but did not recover properly. In conclusion, HPV genotyping should be performed in FEH cases.

  4. Aspirin augments the expression of Adenomatous Polyposis Coli protein by suppression of IKKβ

    Energy Technology Data Exchange (ETDEWEB)

    Ashida, Noboru, E-mail: nashida@kuhp.kyoto-u.ac.jp [Department of Clinical Innovative Medicine, Institute for Advancement of Clinical and Translational Science, Faculty of Medicine, Kyoto University, Kyoto (Japan); Kishihata, Masako [Department of Clinical Innovative Medicine, Institute for Advancement of Clinical and Translational Science, Faculty of Medicine, Kyoto University, Kyoto (Japan); Tien, Dat Nguyen [Department of Clinical Innovative Medicine, Institute for Advancement of Clinical and Translational Science, Faculty of Medicine, Kyoto University, Kyoto (Japan); Department of Biomolecular Engineering, Kyoto Institute of Technology, Kyoto (Japan); Kamei, Kaeko [Department of Biomolecular Engineering, Kyoto Institute of Technology, Kyoto (Japan); Kimura, Takeshi [Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto (Japan); Yokode, Masayuki [Department of Clinical Innovative Medicine, Institute for Advancement of Clinical and Translational Science, Faculty of Medicine, Kyoto University, Kyoto (Japan)

    2014-04-04

    Highlights: • Clinical studies revealed aspirin inhibits cancer, but the mechanism is not known. • Adenomatous Polyposis Coli (APC) is a well-known tumor-suppressing gene. • We found aspirin up-regulates the protein of APC. • Aspirin suppressed the expression of IKKβ, an essential kinase in NFκB activation. • The deletion of IKKβ significantly increases the expression of APC protein. - Abstract: Aspirin has been widely used as analgesic, antipyretic and anti-inflammatory medicine for long. In addition to these traditional effects, clinical studies suggest that aspirin can protect against cancer, but its mechanism has not been explored. To unveil it, we identified the proteins up- or down-regulated after incubation with aspirin by using proteomics analysis with Nano-flow LC/MALDI-TOF system. Interestingly, the analysis identified the protein of Adenomatous Polyposis Coli (APC) as one of the most up-regulated protein. APC regulates cell proliferation or angiogenesis, and is widely known as a tumor-suppressing gene which can cause colorectal cancer when it is mutated. Western blots confirmed this result, and real-time PCR indicated it is transcriptionally regulated. We further tried to elucidate the molecular mechanism with focusing on IKKβ. IKKβ is the essential kinase in activation of nuclear factor-kappa B (NF-κB), major transcriptional factors that regulate genes responsible for inflammation or immune response. Previous reports indicated that aspirin specifically inhibits IKKβ activity, and constitutively active form of IKKβ accelerates APC loss. We found that aspirin suppressed the expression of IKKβ, and the deletion of IKKβ by siRNA increases the expression of APC in HEK294 cells. Finally, we observed similar effects of aspirin in human umbilical vein endothelial cells. Taken together, these results reveal that aspirin up-regulates the expression of APC via the suppression of IKKβ. This can be a mechanism how aspirin prevents cancer at

  5. Tissue-Specific Effects of Reduced β-catenin Expression on Adenomatous Polyposis Coli Mutation-Instigated Tumorigenesis in Mouse Colon and Ovarian Epithelium.

    Directory of Open Access Journals (Sweden)

    Ying Feng

    2015-11-01

    Full Text Available Adenomatous polyposis coli (APC inactivating mutations are present in most human colorectal cancers and some other cancers. The APC protein regulates the β-catenin protein pool that functions as a co-activator of T cell factor (TCF-regulated transcription in Wnt pathway signaling. We studied effects of reduced dosage of the Ctnnb1 gene encoding β-catenin in Apc-mutation-induced colon and ovarian mouse tumorigenesis and cell culture models. Concurrent somatic inactivation of one Ctnnb1 allele, dramatically inhibited Apc mutation-induced colon polyposis and greatly extended Apc-mutant mouse survival. Ctnnb1 hemizygous dose markedly inhibited increases in β-catenin levels in the cytoplasm and nucleus following Apc inactivation in colon epithelium, with attenuated expression of key β-catenin/TCF-regulated target genes, including those encoding the EphB2/B3 receptors, the stem cell marker Lgr5, and Myc, leading to maintenance of crypt compartmentalization and restriction of stem and proliferating cells to the crypt base. A critical threshold for β-catenin levels in TCF-regulated transcription was uncovered for Apc mutation-induced effects in colon epithelium, along with evidence of a feed-forward role for β-catenin in Ctnnb1 gene expression and CTNNB1 transcription. The active β-catenin protein pool was highly sensitive to CTNNB1 transcript levels in colon cancer cells. In mouse ovarian endometrioid adenocarcinomas (OEAs arising from Apc- and Pten-inactivation, while Ctnnb1 hemizygous dose affected β-catenin levels and some β-catenin/TCF target genes, Myc induction was retained and OEAs arose in a fashion akin to that seen with intact Ctnnb1 gene dose. Our findings indicate Ctnnb1 gene dose exerts tissue-specific differences in Apc mutation-instigated tumorigenesis. Differential expression of selected β-catenin/TCF-regulated genes, such as Myc, likely underlies context-dependent effects of Ctnnb1 gene dosage in tumorigenesis.

  6. Cutaneous osteosarcoma arising from a burn scar

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Min A.; Yi, Jaehyuck [Kyungpook National University, Department of Radiology, College of Medicine, Daegu (Korea, Republic of); Kyungpook National University Hospital, Department of Radiology, Daegu (Korea, Republic of); Chae, Jong Min [Kyungpook National University, Department of Pathology, College of Medicine, Daegu (Korea, Republic of)

    2017-04-15

    Tumors that develop in old burn scars are usually squamous cell carcinomas. Sarcomas have also been reported, albeit rarely. To our knowledge, there has been only one case report of an extraskeletal osteosarcoma arising in a prior burn scar reported in the English-language literature, mainly discussing the clinicopathological features. Herein, we present a case of cutaneous osteosarcoma visualized as a mineralized soft-tissue mass arising from the scar associated with a previous skin burn over the back. This seems to be the first report describing the imaging features of a cutaneous osteosarcoma from an old burn scar. (orig.)

  7. The role of inflammatory mediators in the development of prostatic hyperplasia and prostate cancer

    Directory of Open Access Journals (Sweden)

    Elkahwaji JE

    2012-12-01

    Full Text Available Johny E Elkahwaji1–31Section of Urologic Surgery, 2Section of Medical Oncology and Hematology, 3Genitourinary Oncology Research Laboratory, University of Nebraska Medical Center, Omaha, NE, USAAbstract: Benign prostatic hyperplasia and prostate cancer remain the most prevalent urologic health concerns affecting elderly men in their lifetime. Only 20% of benign prostatic hyperplasia and prostate cancer cases coexist in the same zone of the prostate and require a long time for initiation and progression. While the pathogenesis of both diseases is not fully understood, benign prostatic hyperplasia and prostate cancer are thought to have a multifactorial etiology, their incidence and prevalence are indeed affected by age and hormones, and they are associated with chronic prostatic inflammation. At least 20% of all human malignancies arise in a tissue microenvironment dominated by chronic or recurrent inflammation. In prostate malignancy, chronic inflammation is an extremely common histopathologic finding; its origin remains a subject of debate and may in fact be multifactorial. Emerging insights suggest that prostate epithelium damage potentially inflicted by multiple environmental factors such as infectious agents, dietary carcinogens, and hormones triggers procarcinogenic inflammatory processes and promotes cell transformation and disease development. Also, the coincidence of chronic inflammation and tumorigenesis in the peripheral zone has recently been linked by studies identifying so-called proliferative inflammatory atrophy as a possible precursor of prostatic intraepithelial neoplasia and prostate cancer. This paper will discuss the available evidence suggesting that chronic inflammation may be involved in the development and progression of chronic prostatic disease, although a direct causal role for chronic inflammation or infection in prostatic carcinogenesis has yet to be established in humans. Further basic and clinical research in the

  8. 18F-FDG-avid brunner gland hyperplasia.

    Science.gov (United States)

    Park, Seol Hoon; Park, Kwang-Min; Kim, Jae Seung

    2014-08-01

    Brunner gland hyperplasia, a rare duodenal tumor, usually presents with benign features. A 68-year-old man with a history of anemia presented with a polypoid duodenal mass that was detected by CT and esophagogastroduodenoscopy. This mass showed high F-FDG avidity on PET/CT and was histopathologically confirmed as Brunner gland hyperplasia. We suggest that Brunner gland hyperplasia should be considered in the differential diagnosis of F-FDG-avid duodenal tumors.

  9. Unilateral condylar hyperplasia: A case report and review of literature

    OpenAIRE

    Bharathi, Saravana C.; Senthilnathan, S.; Kumar, Lokesh D.; Mohan, Anand C. S.; Taranath, M.

    2014-01-01

    Condylar hyperplasia is (CH) an uncommon malformation of the mandible involving change in size and morphology of the condylar neck and head. CH is an anomaly that usually occurs unilaterally and equally affects in both men and women. Hyperplasia of the condyle ‘differentiated into hemimandibular hyperplasia, hemimandibular elongation and CH. Here, we are presenting a case of 17-year-old male patient with unilateral CH and its review of the literature.

  10. Unilateral condylar hyperplasia: A case report and review of literature.

    Science.gov (United States)

    Bharathi, Saravana C; Senthilnathan, S; Kumar, Lokesh D; Mohan, Anand C S; Taranath, M

    2014-01-01

    Condylar hyperplasia is (CH) an uncommon malformation of the mandible involving change in size and morphology of the condylar neck and head. CH is an anomaly that usually occurs unilaterally and equally affects in both men and women. Hyperplasia of the condyle 'differentiated into hemimandibular hyperplasia, hemimandibular elongation and CH. Here, we are presenting a case of 17-year-old male patient with unilateral CH and its review of the literature.

  11. Denture hyperplasia with areas simulating oral inverted ductal papilloma.

    Science.gov (United States)

    Vargas, Pablo Agustin; Perez, Danyel Elias da Cruz; Jorge, Jacks; Rangel, Ana Lúcia Carrinho Ayrosa; León, Jorge Esquiche; Almeida, Oslei Paes de

    2005-07-01

    Denture hyperplasia is a reactive lesion of the oral mucosa, usually associated to an ill-fitting denture. This lesion is easily diagnosed and in some cases distinct microscopic variations such as osseous, oncocytic and squamous metaplasia may be found. These metaplastic alterations probably are associated with the lymphocytic infiltrate usually present in denture hyperplasia. We present a case of denture hyperplasia containing salivary gland tissue with ductal alterations mimicking an oral inverted ductal papilloma.

  12. Structural basis for the recognition of Asef by adenomatous polyposis coli

    Institute of Scientific and Technical Information of China (English)

    Zhenyi Zhang; Ping Xu; Jian Zhang; Geng Wu; Leyi Chen; Lei Gao; Kui Lin; Liang Zhu; Yang Lu; Xiaoshan Shi; Yuan Gao; Jing Zhou

    2012-01-01

    Adenomatous polyposis coli (APC) regulates cell-cell adhesion and cell migration through activating the APC-stimulated guanine nucleotide-exchange factor (GEF; Aset),which is usually autoinhibited through the binding between its Src homology 3 (SH3) and Dbl homology (DH) domains.The APC-activated Asef stimulates the small GTPase Cdc42,which leads to decreased cell-cell adherence and enhanced cell migration.In colorectal cancers,truncated APC constitutively activates Asef and promotes cancer cell migration and angiogenesis.Here,we report crystal structures of the human APC/Asef complex.We find that the armadillo repeat domain of APC uses a highly conserved surface groove to recognize the APC-binding region (ABR) of Asef,conformation of which changes dramatically upon binding to APC.Key residues on APC and Asef for the complex formation were mutated and their importance was demonstrated by binding and activity assays.Structural superimposition of the APC/Asef complex with autoinhibited Asef suggests that the binding between APC and Asef might create a steric clash between AsefDH domain and APC,which possibly leads to a conformational change in Asef that stimulates its GEF activity.Our structures thus elucidate the molecular mechanism of Asef recognition by APC,as well as provide a potential target for pharmaceutical intervention against cancers.

  13. Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis

    Energy Technology Data Exchange (ETDEWEB)

    Varesco, L.; Gismondi, V.; James, R.; Casarino, L.; De Benedetti, L.; Bafico, A.; Allegretti, A.; Aste, H. (Istituto Nazionale per la Ricerca sul Cancro, Genoa (Italy)); Robertson, M.; Groden, J.; White, R. (Univ. of Utah, Salt Lake City (United States)); Grammatico, P.; De Sanctis, S.; Sciarra, A.; Del Porto, G. (Universita di Roma, Rome (Italy)); Bertario, L.; Sala, P.; Rossetti, C.; Illeni, M.T. (Istituto Nazionale Tumori, Milan (Italy)); Sassatelli, R.; Ponz de Leon, M. (Universita di Modena (Italy)); Biasco, G. (Universita di Bologna (Italy)); Ferrara, G.B. (Istituto Nazionale per la Ricerca sul Cancro, Genoa (Italy) Universita di Napoli, Naples (Italy))

    1993-02-01

    The APC gene is a putative human tumor-suppressor gene responsible for adenomatous polyposis coli (APC), an inherited, autosomal dominant predisposition to colon cancer. It is also implicated in the development of sporadic colorectal tumors. The characterization of APC gene mutations in APC patients is clinically important because DNA-based tests can be applied for presymptomatic diagnosis once a specific mutation has been identified in a family. Moreover, the identification of the spectrum of APC gene mutations in patients is of great interest in the study of the biological properties of the APC gene product. The authors analyzed the entire coding region of the APC gene by the PCR-single-strand conformation polymorphism method in 42 unrelated Italian APC patients. Mutations were found in 12 cases. These consist of small (5-14 bp) base-pair deletions leading to frameshifts; all are localized within exon 15. Two of these deletions, a 5-bp deletion at position 3183-3187 and a 5-bp deletion at position 3926-3930, are present in 3/42 and 7/42 cases of the series, respectively, indicating the presence of mutational hot spots at these two sites. 17 refs., 2 figs., 1 tab.

  14. High resolution genetic map of the adenomatous polyposis coli gene (APC) region

    Energy Technology Data Exchange (ETDEWEB)

    Olschwang, S.; Laurent-Puig, P.; Melot, T. [Institut Curie, Paris (France)

    1995-05-08

    Familial adenomatous polyposis coli (APC) is a dominantly inherited colorectal cancer susceptibility disease caused by mutation in a gene called APC located on chromosome 5q21. Presymptomatic diagnosis of this condition is recommended because it enables restriction of the efficient but demanding prevention program to those relatives that are genetically affected. The large size of the APC gene makes the direct search for the casual alteration difficult to implement in routine diagnostic laboratories. Because APC appears to be genetically homogeneous with alteration in a single locus causing the disease, cosegregation analysis may represent an alternative efficient method for presymptomatic diagnosis. However, the reliability of the risk estimation by linkage analysis in APC families is hampered by the lack of a short range genetic map of the APC locus. A combined approach including genotyping of 65 APC families, analysis of the CEPH database, and complementary typing of both APC and CEPH families has made it possible to derive the following genetic map: Centromere-[D5S82-D5S49]-0.02-D5S122-0.01-D5S136-0.01-D5S135-0.02-[APC-D5S346-MCC]-0.04-[D5S81-D5S64]-Telomere. This order, which differs from previously proposed genetic maps, is fully compatible with recent physical mapping data. These data should contribute to increase the reliability of the presymptomatic test for APC. 42 refs., 1 fig., 3 tabs.

  15. Gene Expression Profiling in Familial Adenomatous Polyposis Adenomas and Desmoid Disease

    Directory of Open Access Journals (Sweden)

    Bowden Nikola A

    2007-06-01

    Full Text Available Abstract Gene expression profiling is a powerful method by which alterations in gene expression can be interrogated in a single experiment. The disease familial adenomatous polyposis (FAP is associated with germline mutations in the APC gene, which result in aberrant β-catenin control. The molecular mechanisms underlying colorectal cancer development in FAP are being characterised but limited information is available about other symptoms that occur in this disorder. Although extremely rare in the general population, desmoid tumours in approximately 10% of FAP patients. The aim of this study was to determine the similarities and differences in gene expression profiles in adenomas and compare them to those observed in desmoid tumours. Illumina whole genome gene expression BeadChips were used to measure gene expression in FAP adenomas and desmoid tumours. Similarities between gene expression profiles and mechanisms important in regulating formation of FAP adenomas and desmoid tumours were identified. This study furthers our understanding of the mechanisms underlying FAP and desmoid tumour formation.

  16. Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

    Directory of Open Access Journals (Sweden)

    Friedl Waltraut

    2005-09-01

    Full Text Available Abstract The autosomal-dominant precancerous condition familial adenomatous polyposis (FAP is caused by germline mutations in the tumour suppressor gene APC. Consistent correlations between the site of mutations in the gene and clinical phenotype have been published for different patient groups. We report our experiences of APC mutation analysis and genotype-phenotype correlations in 1166 unrelated polyposis families and discuss our results in the light of literature data. We show that the mutation detection rates largely depend on the family history and clinical course of the disease. We present a list of 315 different point mutations and 37 large deletions detected in 634 of the 1166 index patients. Our results confirm previously published genotype-phenotype correlations with respect to the colorectal phenotype and extracolonic manifestations. However, 'exceptions to the rule' are also observed, and possible explanations for this are discussed. The discovery of autosomal-recessive MUTYH-associated polyposis (MAP as a differential diagnosis to FAP implies that some results have to be reinterpreted and surveillance guidelines in the families have to be reevaluated.

  17. A Unique Profile of Adenomatous Polyposis Coli Gene Mutations in Iranian Patients Suffering Sporadic Colorectal Cancer

    Directory of Open Access Journals (Sweden)

    Mojtaba Hasanpour

    2014-03-01

    Full Text Available Objective: Colorectal cancer (CRC is one of the most common and aggressive cancers worldwide. The majority of CRC cases are sporadic that caused by somatic mutations. The Adenomatous Polyposis Coli (APC; OMIM 611731 is a tumor suppressor gene of Wnt pathway and is frequently mutated in CRC cases. This study was designed to investigate the spectrum of APC gene mutations in Iranian patients with sporadic colorectal cancer. Materials and Methods: In this descriptive study, Tumor and normal tissue samples were obtained from thirty randomly selected and unrelated sporadic CRC patients. We examined the hotspot region of the APC gene in all patients. Our mutation detection method was direct DNA sequencing. Results: We found a total of 8 different APC mutations, including two nonsense mutations (c.4099C>T and c.4348C>T, two missense mutations (c.3236C>G and c.3527C>T and four frame shift mutations (c.2804dupA, c.4317delT, c.4464_4471delATTACATT and c.4468_4469dupCA. The c.3236C>G and c.4468_4469dupCA are novel mutations. The overall frequency of APC mutation was 26.7% (8 of 30 patients. Conclusion: This mutation rate is lower in comparison with previous studies from other countries. The findings of present study demonstrate a different APC mutation spectrum in CRC patients of Iranian origin compared with other populations.

  18. Two Metachronous Neoplasms in the Radiotherapy Fields of a Young Man With Familial Adenomatous Polyposis.

    Science.gov (United States)

    Williams, Patrick A; Bhaijee, Feriyl; Rezeanu, Luminita; Hamilton, Robert D; Vijayakumar, Srinivasan

    2013-01-01

    It is recognized that various radiation-induced malignancies often follow childhood radiotherapy. Radiation-induced neoplasms have been shown to occur with increased frequency in syndromes due to mutated tumor suppressor genes. There exist no recommendations for the management of cancer patients with germline APC gene mutations. Preclinical data suggest that APC gene mutations cause enhanced radiosensitivity, but no clinical observations exist that show that patients with this mutation are at higher risk for radiation-induced malignancies. We report the case of a 32-year-old man with a genetic diagnosis of familial adenomatous polyposis (FAP) who initially presented at age 10 with a medulloblastoma treated with radiotherapy and surgery. Radiation-induced papillary thyroid carcinoma followed 13 years later. Finally, radiation-induced soft tissue osteosarcoma occurred with widespread metastasis 20 years thereafter. This is the first report of 2 malignancies in the prior radiotherapy fields of a patient with a genetic diagnosis of FAP. More important, this suggests that APC-defective cells are at an enhanced sensitivity to the carcinogenic effects of radiotherapy compared with APC-proficient cells. This could argue for genetic screening in affected members of these families and for creation of treatment recommendations to more seriously consider the risks of radiation therapy.

  19. Two Metachronous Neoplasms in the Radiotherapy Fields of a Young Man With Familial Adenomatous Polyposis

    Directory of Open Access Journals (Sweden)

    Patrick A. Williams BS

    2013-04-01

    Full Text Available Background: It is recognized that various radiation-induced malignancies often follow childhood radiotherapy. Radiation-induced neoplasms have been shown to occur with increased frequency in syndromes due to mutated tumor suppressor genes. There exist no recommendations for the management of cancer patients with germline APC gene mutations. Preclinical data suggest that APC gene mutations cause enhanced radiosensitivity, but no clinical observations exist that show that patients with this mutation are at higher risk for radiation-induced malignancies. Results: We report the case of a 32-year-old man with a genetic diagnosis of familial adenomatous polyposis (FAP who initially presented at age 10 with a medulloblastoma treated with radiotherapy and surgery. Radiation-induced papillary thyroid carcinoma followed 13 years later. Finally, radiation-induced soft tissue osteosarcoma occurred with widespread metastasis 20 years thereafter. Conclusions: This is the first report of 2 malignancies in the prior radiotherapy fields of a patient with a genetic diagnosis of FAP. More important, this suggests that APC-defective cells are at an enhanced sensitivity to the carcinogenic effects of radiotherapy compared with APC-proficient cells. This could argue for genetic screening in affected members of these families and for creation of treatment recommendations to more seriously consider the risks of radiation therapy.

  20. Desmoid Tumor Associated With Familial Adenomatous Polyposis: Evaluation With 64-Detector CT Enterography

    Directory of Open Access Journals (Sweden)

    Oktay Algin

    2012-03-01

    Full Text Available Desmoid tumors (DTs are benign tumors which are not seen very often, and most of the radiologists and clinicians do not know the characteristics of them very well. Correct and early diagnosis of DTs is important for decreasing mortality and morbidity. Computed tomography enterography (CTE is a new modality for small bowel imaging which combines the improved spatial and temporal resolution of multidetector computed tomography (CT with large volumes of ingested enteric contrast material to permit evaluation of the small bowel wall and lumen and also the entire abdomen. We report a familial adenomatous polyposis (FAP patient with localized mesentery and abdominal wall DTs. We showed the exact location of the DTs and their relation with the small bowel by CTE. In conclusion, CTE is a useful technique for DT localization, the degree of extension and invasion to local structures, presence of partial and complete small bowel obstruction, and the relationship of the tumors with vasculature and whether ischemia ha s occurred as a result or not.

  1. Multidetector-row CT duodenography in familial adenomatous polyposis: a pilot study

    Energy Technology Data Exchange (ETDEWEB)

    Taylor, S.A.; Halligan, S. E-mail: s.halligan@imperial.ac.uk; Moore, L.; Saunders, B.P.; Gallagher, M.; Phillips, R.K.S.; Bartram, C.I

    2004-10-01

    AIM: To investigate the feasibility of using multidetector-row computed tomography (CT) duodenography to stage duodenal polyposis in patients with familial adenomatous polyposis. MATERIALS AND METHODS: Six patients underwent multidetector-row CT duodenography before upper gastrointestinal endoscopy. A single-blinded radiologist used a surface shaded three-dimensional endoluminal fly though and two-dimensional axial and multiplanar reformats to assign a score for maximum polyp size and number based on the Spigelman classification. Comparison was made with the corresponding Spigelman scores obtained from subsequent endoscopy. RESULTS: CT duodenography was technically successful in five of six patients. The CT derived Spigelman score based on maximum polyp size was accurate in all five patients. The CT derived Spigelman score based on polyp number was accurate in only two cases: Polyp number was overestimated in one patient and underestimated in a further two. In retrospect, fine carpeting of tiny duodenal polyps was poorly visualized with CT. CONCLUSIONS: CT duodenography is technically feasible and accurately predicts maximum polyp size but CT estimates of polyp number are relatively inaccurate. CT duodenography potentially has a useful role for duodenal surveillance in those patients intolerant of conventional endoscopy.

  2. Results of surgical treatment of atypical endometrial hyperplasia

    Directory of Open Access Journals (Sweden)

    O. A. Gornykh

    2014-01-01

    Full Text Available The results of surgical treatment in 132 patients with atypical endometrial hyperplasia have been studied. Post-operative diagnosis was: en- dometrial cancer – in 19 %, atypical hyperplasia – in 35 %, simple and complex hyperplasia – in 33 %, only atrophic endometrial changes – in 13 % of patients. The tumor was within the endometrium in 5 patients, the superficial invasion of the myometrium (1–2 mm were in 8 patients, invasion to half of the myometrium – in 9 patients, invasion of more than half of the myometrium – in 3 patients. The questions of tactics of treatment of atypical endometrial hyperplasia is under discussion.

  3. [Nodular regenerative hyperplasia associated with primary antiphospholipid syndrome].

    Science.gov (United States)

    Cadranel, J F; Demontis, R; Guettier, C; Bouraya, D; Dautreaux, M; Ghazali, A; Poux, J M; Coutarel, P; Devergie, B; Fievet, P

    1996-01-01

    Nodular regenerative hyperplasia of the liver is characterized by diffuse nodularity of the hepatic parenchyma without fibrotic septa. It may be related to venous or arterial obstruction in the portal tract. We report a case of primary antiphospholipid syndrome associated with nodular regenerative hyperplasia in a 45-year old woman. The patient had an ischemic stroke, associated with an acute arterial ischemia of the left leg. She had high titers of serum anticardiolipin antibodies. Nodular regenerative hyperplasia of the liver was histologically confirmed and was associated with anicteric cholestasis. This case provides additional evidence that a thrombotic mechanism may play a role in the pathogenesis of nodular regenerative hyperplasia of the liver.

  4. ARISE: American renaissance in science education

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1998-09-14

    The national standards and state derivatives must be reinforced by models of curricular reform. In this paper, ARISE presents one model based on a set of principles--coherence, integration of the sciences, movement from concrete ideas to abstract ones, inquiry, connection and application, sequencing that is responsive to how people learn.

  5. Technology arising from High-Energy Physics

    CERN Multimedia

    1974-01-01

    An exibition was held as a part of the Meeting on Technology arising from High- Energy Physics (24-26 April 1974). The Proceedings (including a list of stands) were published as Yellow Report, CERN 74-9, vol. 1-2.

  6. Development and Validation of a High-Throughput Mass Spectrometry Based Urine Metabolomic Test for the Detection of Colonic Adenomatous Polyps

    Directory of Open Access Journals (Sweden)

    Lu Deng

    2017-06-01

    Full Text Available Background: Colorectal cancer is one of the leading causes of cancer deaths worldwide. The detection and removal of the precursors to colorectal cancer, adenomatous polyps, is the key for screening. The aim of this study was to develop a clinically scalable (high throughput, low cost, and high sensitivity mass spectrometry (MS-based urine metabolomic test for the detection of adenomatous polyps. Methods: Prospective urine and stool samples were collected from 685 participants enrolled in a colorectal cancer screening program to undergo colonoscopy examination. Statistical analysis was performed on 69 urine metabolites measured by one-dimensional nuclear magnetic resonance spectroscopy to identify key metabolites. A targeted MS assay was then developed to quantify the key metabolites in urine. A MS-based urine metabolomic diagnostic test for adenomatous polyps was established using 67% samples (un-blinded training set and validated using the remaining 33% samples (blinded testing set. Results: The MS-based urine metabolomic test identifies patients with colonic adenomatous polyps with an AUC of 0.692, outperforming the NMR based predictor with an AUC of 0.670. Conclusion: Here we describe a clinically scalable MS-based urine metabolomic test that identifies patients with adenomatous polyps at a higher level of sensitivity (86% over current fecal-based tests (<18%.

  7. Microinvasive lobular carcinoma arising in a fibroadenoma.

    Science.gov (United States)

    Hayes, Brian D; Quinn, Cecily M

    2013-08-01

    A 51-year-old woman had a 35 mm circumscribed calcified lesion identified on screening mammography, designated R4. Excision showed a fibroadenoma with multiple foci of lobular neoplasia (atypical lobular hyperplasia and classical lobular carcinoma in situ [LCIS]). A focus of microinvasive lobular carcinoma (MILC) was also present, confirmed on immunohistochemistry. The MILC cells were ER positive, Her-2-negative, and e-cadherin negative. Microinvasive carcinoma, defined as "invasive carcinoma with no focus measuring >1 mm" (TNM UICC 7th edition) is usually encountered in ductal carcinoma in situ but may occur with classical, florid, or pleomorphic LCIS. In one series MILC constituted 0.4% of all invasive lobular carcinomas and was present in 0.4% of all LCIS. MILC is a histologically subtle lesion, the identification of which lends further weight to the concept of lobular neoplasia as a precursor lesion. MILC has been observed in hamartoma but, to our knowledge, has not previously been reported in fibroadenoma.

  8. Inflammatory papillary hyperplasia: A systematic review

    Science.gov (United States)

    Gual-Vaqués, Patricia; Jané-Salas, Enric; Egido-Moreno, Sonia; Ayuso-Montero, Raúl; Marí-Roig, Antoni

    2017-01-01

    Introduction Inflammatory papillary hyperplasia (IPH) is a benign lesion of the palatal mucosa. It is usually found in denture-wearers but also has been reported in patients without a history of use of a maxillary prosthesis use. Objetives The aim of this study is to review the literature to assess the prevalence of denture stomatitis and inflammatory papillary hyperplasia and the etiological factors associated. Material and Methods A search was carried out in PubMed (January 2005 to October 2015) with the key words “inflammatory papillary hyperplasia”, “denture stomatitis”, “granular stomatitis” and “Newton’s type III” The inclusion criteria were studies including at least a sample of 50 apparently healthy patients, articles published from 2005 to 2015 written in English. The exclusion criteria were reviews and non-human studies. Results Out of the 190 studies obtained initially from the search 16 articles were selected to be included in our systematic review. The prevalence of denture stomatitis was 29.56% and 4.44% for IPH. We found 5 cases of denture stomatitis among non-denture-wearer individuals. All IPH cases were associated with the use of prosthesis. Smoking and continued use of ill-fitting dentures turned out to be the most frequent risk factors for developing IPH. Conclusions IPH is a rare oral lesion and its pathogenesis still remains unclear. Its presentation among non-denture-wearers is extremely unusual. Key words:Inflammatory papillary hyperplasia, denture stomatitis, prevalence, granular stomatitis, Newton’s type III stomatitis. PMID:27918740

  9. NonClassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Azziz Ricardo

    2010-05-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  10. A success story in congenital adrenal hyperplasia.

    Science.gov (United States)

    Kriplani, Alka; Lunkad, Amol; Agarwal, Nutan; Kulshreshtha, Bindu; Ariachery, C Aminni

    2012-12-01

    Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by enzyme defects in adrenal steroidogenic pathways. CAH due to 21-hydroxylase deficiency accounts for 95 % of cases. This case was diagnosed to have simple virilizing type of CAH and started on dexamethasone, and underwent genitoplasty and clitoroplasty at 25 years of age, then was married 3 years after surgery and conceived spontaneously 2 years after marriage, to deliver a healthy male baby. Thus, proper diagnosis and treatment with steroids and genitoplasty can give females with CAH a normal sexual, normal menstrual, and reproductive function.

  11. Focal epithelial hyperplasia (Heck’s disease)

    OpenAIRE

    Parichehr Gheliani; Atefe Tavangar; Nakissa Torabinia; Laleh Maleki; Tahereh Nosratzehi

    2013-01-01

    Focal epithelial hyperplasia (Heck) is a rare lesion caused by human papilloma virus subtype 13 or 32 and presents as multiple small white or pink papules on the mucosal surface of lips, buccal mucosa and tongue usually seen in children and adolescent of American Indian and Eskimo background. This disease has a genetic basis. The site of new lesions and recurrence are unpredictable. Continued follow up of the patient is often necessary. In this report, a 50-year-old woman is described with be...

  12. FOCAL EPITHELIAL HYPERPLASIA: HECK’S DISEASE

    Directory of Open Access Journals (Sweden)

    Brzeziński Piotr

    2010-10-01

    Full Text Available Heck's disease (focal epithelial hyperplasia (FEH is clinically characterized by multiple circumscribed, soft elevated nodules of the oral mucosa. Papules and plaques are usually the color of normal mucosa, but may be pale or, rarely, white. Disease may persist for years, producing a significant reduction in quality of life. Lessions may be located in the area of mucous membranes of the lips, cheeks and tongue. It is believed that the two virus types are responsible for the FEH, are: HPV 13 and HPV 32. Different therapeutic procedures have been reported: surgical excision, laser ablation, cryotherapy, electrocauterization, interferon, retinoic acid, 5% immiquimod.

  13. Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia

    Science.gov (United States)

    Turcu, Adina F.; Auchus, Richard J.

    2015-01-01

    Synopsis Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids, glucocorticoids and adrenal androgens occur in separate adrenal cortical zones, each expressing specific enzymes. Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive enzymatic defects in cortisol biosynthesis. 21-hydroxylase (21OHD) deficiency accounts for over 90% of CAH cases and when milder or nonclassic forms are included, 21OHD is one of the most common genetic diseases. This review discusses in detail the epidemiology, genetics, diagnostic, clinical aspects and management of 21OHD. PMID:26038201

  14. Ameloblastic Fibrosarcoma Arising in the Maxilla.

    Science.gov (United States)

    Pillay, Rachael R; Bilski, Arthur; Batstone, Martin

    2016-01-01

    Ameloblastic fibrosarcoma (AFS) is a rare odontogenic neoplasm of the jaw that usually arises de novo or through a malignant change in the mesenchymal component of a preexisting or recurrent benign fibroma. The majority of AFS cases reported in the literature arise in the mandible. A 35-year-old male presented with an asymptomatic left maxillary mass that on imaging was found to be effacing most of his maxillary sinus. He underwent a left maxillectomy with free-flap reconstruction and adjuvant radiotherapy to the tumor bed. Wide local excision remains the treatment of choice for AFS, given the poor survival rates of patients with recurrent disease. However, long-term studies and follow-up are needed to elucidate the role of adjuvant therapies in the primary treatment of AFS.

  15. Sclerosing haemangioma arising within extralobar pulmonary sequestration

    Energy Technology Data Exchange (ETDEWEB)

    Ahmetoglu, Ali; Kosucu, Polat; Guemele, Halit Resit [Department of Radiology, Farabi Hospital, Karadeniz Technical University, 61080 Trabzon (Turkey); Imamoglu, Mustafa; Cay, Ali [Department of Paediatric Surgery, Farabi Hospital, Karadeniz Technical University, Trabzon (Turkey); Reis, Abdulkadir [Department of Pathology, Farabi Hospital, Karadeniz Technical University, Trabzon (Turkey)

    2003-09-01

    Extralobar pulmonary sequestration is a rare anomaly of abnormal pulmonary tissue without any communication to the bronchial tree. Sclerosing haemangioma is a rare lung tumour, generally seen in middle-aged women. The combination of these two rare pathologies has not been previously reported. We describe the CT and CT angiographic findings of sclerosing haemangioma arising within an extralobar pulmonary sequestration in a 2-year-old girl. (orig.)

  16. Determination of optical properties of normal and adenomatous human colon tissues in vitro using integrating sphere techniques

    Institute of Scientific and Technical Information of China (English)

    Hua-Jiang Wei; Da Xing; Jian-Jun Lu; Huai-Min Gu; Guo-Yong Wu; Ying Jin

    2005-01-01

    AIM: The purpose of the present study is to compare the optical properties of normal human colon mucosa/submucosa and muscle layer/chorion, and adenomatous human colon mucosa/submucosa and muscle layer/chorion in vitro at 476.5, 488, 496.5, 514.5 and 532 nm. We believe these differences in optical properties should help differential diagnosis of human colon tissues by using optical methods.METHODS: In vitro optical properties were investigated for four kinds of tissues: normal human colon mucosa/submucosa and muscle layer/chorion, and adenomatous human colon mucosa/submucosa and muscle layer/chorion. Tissue samples were taken from 13 human colons (13 adenomatous, 13 normal). From the normal human colons a total of 26 tissue samples, with a mean thickness of 0.40 mm, were used (13 from mucosa/submucosa and 13 from muscle layer/chorion), and from the adenomatous human bladders a total of 26 tissue samples, with a mean thickness of 0.40 mm, were used (13 from mucosa/submucosa and 13 from muscle layer/chorion). The measurements were performed using a double-integratingsphere setup and the optical properties were assessed from these measurements using the adding-doubling method that was considered reliable.RESULTS: The results of measurement showed that there were significant differences in the absorption coefficients and scattering coefficients between normal and adenomatous human colon mucosa/submucosa at the same wavelength,and there were also significant differences in the two optical parameters between both colon muscle layer/chorion at the same wavelength. And there were large differences in the anisotropy factors between both colon mucosa/submucosa at the same wavelength, there were also large differences in the anisotropy factors between both colon muscle layer/chorion at the same wavelength.There were large differences in the value ranges of the absorption coefficients, scattering coefficients and anisotropy factors between both colon mucosa/submucosa,and there

  17. Preoperative and postoperative histopathological findings in patients with endometrial hyperplasia

    OpenAIRE

    Đorđević Biljana; Stanojević Zorica; Živković Vesna; Lalošević Dušan; Gligorijević Jasmina; Krstić Miljan

    2007-01-01

    Introduction. The aim of this study was to analyze and compare the histopathological findings in curettage and hysterectomy specimens, to evaluate the accuracy of histopathological diagnosis in curettage specimens, and to determine the frequency of coexisting endometrial carcinoma in patients with histopathological diagnosis of endometrial hyperplasia. Material and methods. Curettage and hysterectomy specimens of 135 female patients with initially diagnosed endometrial hyperplasia were retros...

  18. Focal epithelial hyperplasia caused by human papillomavirus 13.

    Science.gov (United States)

    Saunders, Natasha R; Scolnik, Dennis; Rebbapragada, Anuradha; Koelink, Eric; Craw, Lindsey; Roth, Sherryn; Aronson, Leya; Perusini, Stephen; Silverman, Michael S

    2010-06-01

    Focal epithelial hyperplasia is a benign, papulo-nodular disease of the oral cavity. It is rare, affecting primarily Native American populations during childhood. It is closely associated with human papillomavirus 13 and 32. This report describes the diagnosis of 2 cases of focal epithelial hyperplasia in children from southern Guyana. The diagnosis was made using clinical criteria, polymerase chain reaction, and DNA sequencing.

  19. Management strategies in Lynch syndrome and familial adenomatous polyposis: a national healthcare survey in Japan.

    Science.gov (United States)

    Yamano, Tomoki; Hamanaka, Michiko; Babaya, Akihito; Kimura, Kei; Kobayashi, Masayoshi; Fukumoto, Miki; Tsukamoto, Kiyoshi; Noda, Masafumi; Matsubara, Nagahide; Tomita, Naohiro; Sugihara, Kenichi

    2017-02-01

    Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are major sources of hereditary colorectal cancer (CRC) and are associated with other malignancies. There is some heterogeneity in management strategies in Japan. We undertook a survey of management of hereditary CRC in hospitals that are members of the Japan Society of Colorectal Cancer Research. One hundred and ninety departments responded, of which 127 were from designated cancer care hospitals (DCCHs) according to the Japanese government. There were 25 488 operations for CRC in these departments in 2015. The DCCHs performed better with regard to usage of Japan Society of Colorectal Cancer Research guidelines, referring new CRC patients for LS screening, and having in-house genetic counselors and knowledge of treatment for LS. There were 174 patients diagnosed with LS and 602 undergoing follow-up in 2011-2015, which is fewer than the number expected from CRC operations in 2015. These numbers were not affected by whether the institution was a DCCH. Universal screening for LS was carried out in 8% of the departments. In contrast, 541 patients were diagnosed with FAP and 273 received preventive proctocolectomy/colectomy in 2011-2015. The DCCH departments undertook more surgery than non-DCCH departments, although most of the management, including surgical procedures and use of non-steroidal anti-inflammatory drugs, was similar. Management of desmoid tumor in the abdominal cavity differed according to the number of patients treated. In conclusion, there was heterogeneity in management of LS but not FAP. Most patients with LS may be overlooked and universal screening for LS is not common in Japan.

  20. Apoplexia hipofisária intradenomatosa Intra-adenomatous pituitary apoplexy

    Directory of Open Access Journals (Sweden)

    Flávio Freinkel Rodrigues

    1997-01-01

    Full Text Available Os autores analisam a literatura sobre apoplexia hipofisária intradenomatosa, enfocando a fisiopatologia, o diagnóstico e a conduta terapêutica. Estudam 5 casos , de uma série de 86 pacientes com tumores hipofisários que desenvolveram esta síndrome e que foram diagnosticados e acompanhados pelos serviços de Neurocirurgia e Endocrinologia do Hospital Universitário Clementino Fraga Filho da Universidade Federal do Rio de Janeiro. Todos os casos, a partir da suspeita clínica, tiveram o diagnóstico confirmado por estudo de tomografia computadorizada de crânio e/ou ressonância magnética de crânio. O tratamento de escolha foi cirúrgico. As conclusões apontam para as dificuldades diagnósticas desta situação clínica e da urgência na instituição da terapia.The authors review the literature on intra-adenomatous pituitary apoplexy with special emphasis on pathophysiology, diagnosis and therapeutic approach. They present five cases, from a series of 86 patients with pituitary tumors, that developed this syndrome. The patients were diagnosed and followed by the Neurosurgery and Endocrinology Services of Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro. Diagnosis was confirmed by CT-Scan and MRI in all cases , and the treatment of choice was surgical. Conclusions point to the diagnostic difficulties and the urgency of treatment in this clincal setting.

  1. Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families

    Directory of Open Access Journals (Sweden)

    Meuller Johan

    2008-04-01

    Full Text Available Abstract Background The dominantly inherited condition familial adenomatous polyposis (FAP is caused by germline mutations in the APC gene. Finding the causative mutations has great implications for the families. Correlating the genotypes to the phenotypes could help to improve the diagnosis and follow-up of patients. Methods Mutation screening of APC and the clinical characterization of 96 unrelated FAP patients from the Swedish Polyposis Registry was performed. In addition to generally used mutation screening methods, analyses of splicing-affecting mutations and investigations of the presence of low-frequency mutation alleles, indicating mosaics, have been performed, as well as quantitative real-time polymerase chain reaction to detect lowered expression of APC. Results Sixty-one different APC mutations in 81 of the 96 families were identified and 27 of those are novel. We have previously shown that 6 of the 96 patients carried biallelic MUTYH mutations. The 9 mutation-negative cases all display an attenuated or atypical phenotype. Probands with a genotype (codon 1250–1464 predicting a severe phenotype had a median age at diagnosis of 21.8 (range, 11–49 years compared with 34.4 (range, 14–57 years among those with mutations outside this region (P 1000 occurred in 75% of the probands with a severe phenotype compared with 30% in those with mutations outside this region. The morbidity in colorectal cancer among probands was 25% at a mean age of 37.5 years and 29% at a mean age of 46.6 years. Conclusion Using a variety of mutation-detection techniques, we have achieved a 100% detection frequency in classical FAP. Probands with APC mutations outside codon 1250–1464, although exhibiting a less-severe phenotype, are at high risk of having a colorectal cancer at diagnosis indicating that age at diagnosis is as important as the severity of the disease for colorectal cancer morbidity.

  2. Defensin expression in chronic pouchitis in patients with ulcerative colitis or familial adenomatous polyposis coli

    Institute of Scientific and Technical Information of China (English)

    Karlheinz Kiehne; Gabriele Brunke; Franziska Wegner; Tomas Banasiewicz; Ulrich R F(o)lsch; Karl-Heinz Herzig

    2006-01-01

    AIM:Pouchitis develops in ileoanal pouches in up to 50% of patients with ulcerative colitis during the first 10years after pouch surgery while being rare in patients after proctocolectomy for familial adenomatous polyposis coii (FAP) syndrome. Defensins are major components of the innate immune system and play a significant role in gastrointestinal microbial homeostasis. Pouch defensin and cytokine expression were correlated with states of pouch inflammation to study their role in pouchitis.METHODS:Patients with ulcerative colitis and FAP syndrome were stratified into groups with pouches after surgery, pouches without or with pouchitis. Biopsies from terminal ileum from a healthy intestine or from normal terminal ileum of patients with ulcerative colitis served as controls, mRNA from pouches and controls was analysed for defensin and cytokine expression.RESULTS: Expression of defensins was increased in all pouches immediately after surgery, compared to ileum of controls. Initially, pouches in ulcerative colitis revealed higher defensin expression than FAP pouches. Defensin expression declined in both patient groups and increased again slightly in pouchitis in patients with ulcerative colitis. FAP pouches without pouchitis had strong expression of β-defensin hBD-1, while all other defensins remained at low levels. Cytokine expression in ulcerative colitis pouches was high, while FAP pouches showed moderately elevated cytokines only after surgery.CONCLUSION: Development of pouchitis correlates with decreased defensin expression in ulcerative colitis in addition to high expression of cytokines. The low incidence of pouchitis in FAP pouches correlates with increased expression of hBD-1 β- defensin in association with low cytokine levels.

  3. Therapeutic options for management of endometrial hyperplasia.

    Science.gov (United States)

    Chandra, Vishal; Kim, Jong Joo; Benbrook, Doris Mangiaracina; Dwivedi, Anila; Rai, Rajani

    2016-01-01

    Endometrial hyperplasia (EH) comprises a spectrum of changes in the endometrium ranging from a slightly disordered pattern that exaggerates the alterations seen in the late proliferative phase of the menstrual cycle to irregular, hyperchromatic lesions that are similar to endometrioid adenocarcinoma. Generally, EH is caused by continuous exposure of estrogen unopposed by progesterone, polycystic ovary syndrome, tamoxifen, or hormone replacement therapy. Since it can progress, or often occur coincidentally with endometrial carcinoma, EH is of clinical importance, and the reversion of hyperplasia to normal endometrium represents the key conservative treatment for prevention of the development of adenocarcinoma. Presently, cyclic progestin or hysterectomy constitutes the major treatment option for EH without or with atypia, respectively. However, clinical trials of hormonal therapies and definitive standard treatments remain to be established for the management of EH. Moreover, therapeutic options for EH patients who wish to preserve fertility are challenging and require nonsurgical management. Therefore, future studies should focus on evaluation of new treatment strategies and novel compounds that could simultaneously target pathways involved in the pathogenesis of estradiol-induced EH. Novel therapeutic agents precisely targeting the inhibition of estrogen receptor, growth factor receptors, and signal transduction pathways are likely to constitute an optimal approach for treatment of EH.

  4. Torus hyperplasia of the pyloric antrum.

    Science.gov (United States)

    Kim, Chi-Hun; Han, Hye Seung; Lee, Sun-Young; Kim, Byung Kook; Sung, In-Kyung; Seong, Moo Kyung; Lee, Kyung Yung

    2010-01-01

    Primary or idiopathic hypertrophy of the pyloric muscle in adult, so called torus hyperplasia, is an infrequent but an established entity. It is caused by a circular muscle hypertrophy affecting the lesser curvature near the pylorus. Since most of the lesions are difficult to differentiate from tumor, distal gastrectomy is usually preformed to rule out most causes of pyloric lesions including neoplastic ones through a pathological study. A 56-yr-old man with a family history of gastric cancer presented with abdominal discomfort of 1 month duration. Upper gastrointestinal endoscopy showed a 1.0 cm sized irregular submucosal lesion proximal to the pylorus to the distal antrum on the lesser curvature. On colonoscopy examination, a 1.5 cm sized protruding mass was noticed on the appendiceal orifice. Gastrectomy and cecectomy were done, and histological section revealed marked hypertrophy of the distal circular pyloric musculature and an appendiceal mucocele. To the best of our knowledge, this is the first case of torus hyperplasia with appendiceal mucocele which is found incidentally.

  5. Therapeutic options for management of endometrial hyperplasia

    Science.gov (United States)

    2016-01-01

    Endometrial hyperplasia (EH) comprises a spectrum of changes in the endometrium ranging from a slightly disordered pattern that exaggerates the alterations seen in the late proliferative phase of the menstrual cycle to irregular, hyperchromatic lesions that are similar to endometrioid adenocarcinoma. Generally, EH is caused by continuous exposure of estrogen unopposed by progesterone, polycystic ovary syndrome, tamoxifen, or hormone replacement therapy. Since it can progress, or often occur coincidentally with endometrial carcinoma, EH is of clinical importance, and the reversion of hyperplasia to normal endometrium represents the key conservative treatment for prevention of the development of adenocarcinoma. Presently, cyclic progestin or hysterectomy constitutes the major treatment option for EH without or with atypia, respectively. However, clinical trials of hormonal therapies and definitive standard treatments remain to be established for the management of EH. Moreover, therapeutic options for EH patients who wish to preserve fertility are challenging and require nonsurgical management. Therefore, future studies should focus on evaluation of new treatment strategies and novel compounds that could simultaneously target pathways involved in the pathogenesis of estradiol-induced EH. Novel therapeutic agents precisely targeting the inhibition of estrogen receptor, growth factor receptors, and signal transduction pathways are likely to constitute an optimal approach for treatment of EH. PMID:26463434

  6. Kapteyn series arising in radiation problems

    Energy Technology Data Exchange (ETDEWEB)

    Lerche, I [Institut fuer Geowissenschaften, Naturwissenschaftliche Fakultaet III, Martin-Luther-Universitaet Halle, D-06099 Halle (Germany); Tautz, R C [Institut fuer Theoretische Physik, Lehrstuhl IV: Weltraum- und Astrophysik, Ruhr-Universitaet Bochum, D-44780 Bochum (Germany)

    2008-01-25

    In discussing radiation from multiple point charges or magnetic dipoles, moving in circles or ellipses, a variety of Kapteyn series of the second kind arises. Some of the series have been known in closed form for a hundred years or more, others appear not to be available to analytic persuasion. This paper shows how 12 such generic series can be developed to produce either closed analytic expressions or integrals that are not analytically tractable. In addition, the method presented here may be of benefit when one has other Kapteyn series of the second kind to consider, thereby providing an additional reason to consider such series anew.

  7. Angiomyolipoma arising in the gluteal region

    Institute of Scientific and Technical Information of China (English)

    Emmanouil Pikoulis; Constantine Bramis; Othon Mich; George Liapis; Evangelos Felekourasx; Vassiliki Kyriakou; John Griniatsos

    2007-01-01

    @@ Angiomyolipoma (AML) is a tumour of uncertain histogenesis originally believed to be a hamartomatous lesion, but recently recognized as a usually benign clonal mesenchymal neoplasm.1 Along with lymphagiomyomatosis (LAM), clear cell "sugar"tumour (CCST) and clear cell myelomelanocytic tumour (CCMMT), AML was classified in the so called perivascular epithelioid cell (PEComa) neoplasm family.1 Kidney constitutes the principal site of its development.Extrarenal AMLs are rare and to the best of our knowledge, only two cases of AML development in the soft tissues have been reported so far.2,3 We presented a 23 years old female patient with an AML arising in the left gluteal region.

  8. Security risks arising from portable storage devices

    CSIR Research Space (South Africa)

    Molotsi, K

    2012-10-01

    Full Text Available ? To identify and provide security countermeasures to help organisations and users to address the security risks from PSDs DEFINITION OF PORTABLE STORAGE DEVICES A PSD can be defined as: ? A small, lightweight device that is capable of storing... stream_source_info Molotsi_2012.pdf.txt stream_content_type text/plain stream_size 4841 Content-Encoding ISO-8859-1 stream_name Molotsi_2012.pdf.txt Content-Type text/plain; charset=ISO-8859-1 Security risks arising from...

  9. Eccrine Poroma Arising within Nevus Sebaceous

    Directory of Open Access Journals (Sweden)

    Natnicha Girdwichai

    2016-04-01

    Full Text Available Nevus sebaceous is a congenital, benign hamartomatous lesion, characterized by a yellowish to skin-colored, hairless, verrucous plaque on the head and neck region. In later life, a secondary tumor, either benign or malignant, can develop within nevus sebaceous. Eccrine poroma developing on nevus sebaceous is extremely rare. There are few case reports of eccrine poroma developing within nevus sebaceous. We report a case of a 30-year-old female who presented with a congenital, hairless, verrucous, yellowish lesion on the scalp and an erythematous nodule arising within the yellowish lesion for 8 months. Her clinical presentation and histopathological findings were compatible with nevus sebaceous and eccrine poroma.

  10. Giant fibroadenomatoid hyperplasia of the breast: a case report.

    Science.gov (United States)

    Zhang, Hao; Wang, Xin-Lu; Ren, Wei-Dong; Shi, Tie-Mei

    2014-01-01

    Fibroadenomatoid hyperplasia of the breast (FAHB) is a rare benign breast lesion and its clinical features are similar to fibroadenoma and fibrocystic changes. FAHB has been previously termed sclerosing lobular hyperplasia, fibroadenomatosis, fibroadenomatoid change, or fibroadenomatoid mastopathy. Typically, FAHB is derived from stroma and epithelia. The pathologic characteristics of FAHB are microfocal lobulocentric proliferation of stroma accompanied by epithelial and myoepithelial components resembling similar histological changes, as found in fibroadenoma, apocrine hyperplasia, intraductal hyperplasia, and lobular hyperplasia. FAHB could be present as a localized or diffused pattern in pathology. Most cases show no well-circumscribed mass lesions and no apparent capsules; it is usually identified as an incidental finding in other benign lesions or in random sampling in cancerous breast tissues. FAHB is categorized as a benign proliferative breast disease and it has previously been reported; however, the authors believe this study may be the first case with two giant masses reported. Fiber adenoma hyperplasia is a rare cystic hyperplasia of breast pathology and its ultrasonographic manifestations are easily confused with breast cancer. Comparative MRI ultrasound analysis will help make the differential diagnosis.

  11. Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

    Energy Technology Data Exchange (ETDEWEB)

    Stella, A.; Resta, N.; Susca, F.; Guanti, G.; Gentile, M. (Universita di Bari (Italy)); Mareni, C.; Montera, P. (Universita di Genova (Italy))

    1993-11-01

    Familial adenomatous polyposis (FAP) is a premalignant disease inherited as an autosomal dominant trait, characterized by hundreds to thousands of polyps in the colorectal tract. Recently, the syndrome has been shown to be caused by mutations in the APC (adenomatous polyposis coli) gene located on chromosome 5q21. The authors studied two families that both presented a phenotype different from that of the classical form of FAP. The most important findings observed in these two kindreds are (a) low and variable number of colonic polyps (from 5 to 100) and (b) a slower evolution of the disease, with colon cancer occurring at a more advanced age than in FAP in spite of the early onset of intestinal manifestations. To determine whether mutations of the APC gene are also responsible for this variant syndrome, linkage studies were performed by using a series of markers both intragenic and tightly linked to the APC gene. The results provide evidence for exclusion of the APC gene as the cause of the variant form of polyposis present in the two families described. 30 refs., 1 fig., 1 tab.

  12. Herpesvirus saimiri-mediated delivery of the adenomatous polyposis coli tumour suppressor gene reduces proliferation of colorectal cancer cells.

    Science.gov (United States)

    Macnab, Stuart A; Turrell, Susan J; Carr, Ian M; Markham, Alex F; Coletta, P Louise; Whitehouse, Adrian

    2011-11-01

    Colorectal cancer (CRC) is a major cause of cancer-related mortality. A contributing factor to the progression of this disease is sporadic or hereditary mutation of the adenomatous polyposis coli (APC) gene, a negative regulator of the Wnt signalling pathway. Inherited mutations in APC cause the disorder familial adenomatous polyposis (FAP), which leads to CRC development in early adulthood. However, the gene is also disrupted in some 60% of sporadic cancers. Restoration of functional APC may slow the growth of CRC by negatively regulating proliferation-associated genes such as c-myc. Therefore, we have cloned the cDNA of the APC tumour suppressor gene into a replication competent Herpesvirus saimiri (HVS)-based vector to assess APC gene delivery in SW480 and SW620 CRC cell lines. Our results demonstrate that full length APC protein was efficiently expressed from the HVS vector and that transgene expression inhibited proliferation of both the SW480 and the metastatic SW620 cancer cell lines. Moreover, a sustained effect could be observed for at least 8 weeks after initial infection in SW480 cells. In addition, monolayer wounding assays showed a marked reduction in proliferation and migration in HVS-GFP-APC infected cells. We believe that this is the first instance of infectious delivery and APC cDNA expression from a virus-based vector.

  13. Ability of FDG-PET to detect all cancers in patients with familial adenomatous polyposis, and impact on clinical management

    Energy Technology Data Exchange (ETDEWEB)

    Kouwen, Mariette C.A. van; Drenth, Joost P.H.; Friederich, Pieter; Nagengast, Fokko M. [Radboud University Nijmegen Medical Centre, Department of Gastroenterology and Hepatology, 9101, Nijmegen (Netherlands); Krieken, J. Han J.M. van [Radboud University Nijmegen Medical Centre, Department of Pathology, Nijmegen (Netherlands); Goor, Harry van [Radboud University Nijmegen Medical Centre, Department of Surgery, Nijmegen (Netherlands); Oyen, Wim J.G. [Radboud University Nijmegen Medical Centre, Department of Nuclear Medicine, Nijmegen (Netherlands)

    2006-03-15

    Familial adenomatous polyposis (FAP) is characterised by colonic and duodenal adenomatous polyps that carry a risk of malignant transformation. Malignant degeneration of duodenal adenomas is difficult to detect. We speculated that 2-({sup 18}F)-fluoro-2-deoxy-d-glucose positron emission tomography (FDG-PET) might be able to detect early duodenal cancer in FAP. Accordingly, we investigated the role of FDG-PET in the management of FAP patients. FDG-PET was performed in 24 FAP patients. Eight had advanced duodenal adenomas (Spigelman IV), including two patients with duodenal cancer. Scans were defined as positive on the basis of focal FDG accumulation. Pathological FDG accumulation was absent in 19 of 24 patients. All six patients with Spigelman IV duodenal adenomas (without cancer) were negative; two of these underwent a duodenectomy and pathological examination did not reveal duodenal cancer. In five patients, FDG-PET revealed significant uptake, in the duodenum (2), lower abdomen (1), lung (1) and multiple sites in the abdomen (1). These hot spots correlated with duodenal cancer (2), abdominal metastasis (1) and sclerosing haemangioma of the lung (1). We failed to make a histopathological diagnosis in the single patient with multiple intra-abdominal sites of FDG uptake. None of the patients from the FDG-PET-negative group developed cancer during follow-up (mean 2.8 years). (orig.)

  14. Anti-hyperplasia effects of Rosa rugosa polyphenols in rats with hyperplasia of mammary gland.

    Science.gov (United States)

    Chen, Tao; Li, Jingjing; Chen, Jinglou; Song, Hongping; Yang, Chuhao

    2015-03-01

    Rosa rugosa (Thunb.) is used in Chinese traditional medicine with the functions of promoting blood circulation, relieving the depressed liver and attenuating breast disorders. This study was to investigate the anti-hyperplasia effects of the polyphenols-rich fraction from R. rugosa (FRR) in rat. Rat model of hyperplasia of mammary gland (HMG) was induced by intramuscularly injected with estrogen (0.5mg/kg/d) for 25 days, and followed with progestogen (5mg/kg/d) for another 5 days. Meanwhile, FRR was orally given for 30 days. Then, the levels of estradiol and oxidative stress were assessed. The mammary expressions of AKT and JNK were evaluated by Western blot analysis. The expressions of NFκB-p65, COX-2 and VEGF were measured by immunohistochemical analysis. The whole results indicated that FRR could exert anti-hyperplasia effects in rat via modulating the mammary expression of JNK and AKT, as well as alleviating the NFκB related oxidative stress and inflammatory responses.

  15. Focal Epithelial Hyperplasia. A Case Report

    Directory of Open Access Journals (Sweden)

    Rafael Pila Pérez

    2014-02-01

    Full Text Available Focal epithelial hyperplasia, also known as Heck's disease, is relatively rare, occurring mostly in children and adolescents. A case of a 20 year-old female patient treated at the Manuel Ascunce Domenech University Hospital in Camagüey due to papular lesions, which had evolved for ten months, is presented. Other viral diseases were ruled out; however based on histological studies, it was concluded that she suffered from Heck disease, which is frequently treated by dentists, but little known among pediatricians, internists and dermatologists. Because of its etiology, many cases are related to human papilloma virus infection. When the disease evolves, treatment can involve excision, laser surgery or cryotherapy. The latter method was used in this patient with satisfactory results, as she is completely asymptomatic.

  16. Mice lacking neurofibromin develop gastric hyperplasia

    Science.gov (United States)

    Lin, Lu; Chen, Jian; Richardson, James A.

    2009-01-01

    Gastrointestinal (GI) neoplasms are among many manifestations of the genetic disease neurofibromatosis type 1 (NF1). However, the physiological and pathological functions of the Nf1 gene in the GI system have not been fully studied, possibly because of a lack of mouse models. In this study, we generated conditional knockout mice with Nf1 deficiency in the GI tract. These mice develop gastric epithelial hyperplasia and inflammation together with increased cell proliferation and apoptosis. The gastric phenotypes observed in these mutant mice seem to be the consequence of loss of Nf1 in gastric fibroblasts, resulting in paracrine hyperactivation of the ERK pathway in the gastric epithelium. These mice provide a useful model to study the pathogenesis of GI lesions in a subset of patients with NF1 and to investigate the role of the Nf1 gene in the development of GI neoplasms. PMID:19661150

  17. Risk stratification for benign prostatic hyperplasia.

    Science.gov (United States)

    Zattoni, Fabio; Ficarra, Vincenzo; Novara, Giacomo

    2017-03-18

    Benign prostatic hyperplasia (BPH) represents an important public health problem in ageing men due to frequently associated lower urinary tract symptoms (LUTS), which may impair quality of life. BPH is also a progressive disease, mainly characterized by a worsening of LUTS over time, and in some patients by the occurrence of serious outcomes such as acute urinary retention and need for BPH-related surgery. The management of BPH and LUTS in men should move forward its focus on symptom control only. Indeed, the goals of therapy for BPH are not only to improve bothersome LUTS but also to identify those patients at risk of unfavourable outcomes in order to optimize their management and reduce complications. Risk stratification and tailored treatment should improve the reductions in both symptoms and the long-term consequences of BPH and BPH treatments. To do this, clinicians need to know possible factors that may support the develop of PBH and possible risks due to the BPH itself.

  18. Papillary endothelial hyperplasia (Masson's tumor) in children.

    Science.gov (United States)

    Liné, A; Sanchez, J; Jayyosi, L; Birembaut, P; Ohl, X; Poli-Mérol, M-L; François, C

    2016-06-23

    The intravascular papillary endothelial hyperplasia (IPEH/Masson's tumor) is a rare benign tumor of the skin and subcutaneous vessels. We report, in four pediatric cases, clinical presentation, care (diagnostic and surgical) of Masson's tumor in children. Two boys (two years) and two girls (four and six years) showed a pain subcutaneous tumor (one to five centimeters). They were in the transverse abdominal muscle, between two metatarsals, at the front of thigh and in the axilla. Imaging performed (MRI, Doppler ultrasound) evoked either a hematoma, a lymphangioma or hemangioma. The indication for removal was selected from pain and/or parental concern. The diagnosis was histologically. A lesion persisted in residual form (incomplete initial resection), and is currently not scalable for eleven years.

  19. Congenital adrenal hyperplasia: Treatment and outcomes.

    Science.gov (United States)

    Kamoun, Mahdi; Feki, Mouna Mnif; Sfar, Mohamed Habib; Abid, Mohamed

    2013-10-01

    Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders where there is impairment of cortisol biosynthesis. CAH due to 21-hydroxylase deficiency accounts for 95% of cases and shows a wide range of clinical severity. Glucocorticoid and mineralocorticoid replacement therapies are the mainstays of treatment of CAH. The optimal treatment for adults with CAH continues to be a challenge. Important long-term health issues for adults with CAH affect both men and women. These issues may either be due to the disease or to steroid treatment and may affect final height, fertility, cardiometabolic risk, bone metabolism, neuro-cognitive development and the quality-of-life. Patients with CAH should be regularly followed-up from childhood to adulthood by multidisciplinary teams who have knowledge of CAH. Optimal replacement therapy, close clinical and laboratory monitoring, early life-style interventions, early and regular fertility assessment and continuous psychological management are needed to improve outcome.

  20. Congenital adrenal hyperplasia: Treatment and outcomes

    Directory of Open Access Journals (Sweden)

    Mahdi Kamoun

    2013-01-01

    Full Text Available Congenital adrenal hyperplasia (CAH describes a group of autosomal recessive disorders where there is impairment of cortisol biosynthesis. CAH due to 21-hydroxylase deficiency accounts for 95% of cases and shows a wide range of clinical severity. Glucocorticoid and mineralocorticoid replacement therapies are the mainstays of treatment of CAH. The optimal treatment for adults with CAH continues to be a challenge. Important long-term health issues for adults with CAH affect both men and women. These issues may either be due to the disease or to steroid treatment and may affect final height, fertility, cardiometabolic risk, bone metabolism, neuro-cognitive development and the quality-of-life. Patients with CAH should be regularly followed-up from childhood to adulthood by multidisciplinary teams who have knowledge of CAH. Optimal replacement therapy, close clinical and laboratory monitoring, early life-style interventions, early and regular fertility assessment and continuous psychological management are needed to improve outcome.

  1. Microwave Treatment of Prostate Cancer and Hyperplasia

    Science.gov (United States)

    Arndt, G. Dickey; Ngo, Phong; Carl, J. R.; Raffoul, George

    2005-01-01

    Microwave ablation in the form of microwave energy applied to a heart muscle by a coaxial catheter inserted in a vein in the groin area can be used to heat and kill diseased heart cells. A microwave catheter has been developed to provide deep myocardial ablation to treat ventricular tachycardia by restoring appropriate electrical activity within the heart and eliminating irregular heartbeats. The resulting microwave catheter design, which is now being developed for commercial use in treating ventricular tachycardia, can be modified to treat prostate cancer and benign prostatic hyperplasia (BPH). Inasmuch as the occurrence of BPH is increasing currently 350,000 operations per year are performed in the United States alone to treat this condition this microwave catheter has significant commercial potential.

  2. Pseudoangiomatous stromal hyperplasia causing massive breast enlargement.

    Science.gov (United States)

    Bourke, Anita Geraldine; Tiang, Stephen; Harvey, Nathan; McClure, Robert

    2015-10-16

    Pseudoangiomatous stromal hyperplasia (PASH) of the breast is a benign mesenchymal proliferative process, initially described by Vuitch et al. We report an unusual case of a 46-year-old woman who presented with a 6-week history of bilateral massive, asymmetrical, painful enlargement of her breasts, without a history of trauma. On clinical examination, both breasts were markedly enlarged and oedematous, but there were no discrete palpable masses. Preoperative image-guided core biopsies and surgery showed PASH. PASH is increasingly recognised as an incidental finding on image-guided core biopsy performed for screen detected lesions. There are a few reported cases of PASH presenting as rapid breast enlargement. In our case, the patient presented with painful, asymmetrical, massive breast enlargement. Awareness needs to be raised of this entity as a differential diagnosis in massive, painful breast enlargement.

  3. Verrucous Hyperplasia: Case report and differential diagnosis.

    Science.gov (United States)

    Grover, Sonal; Jha, Mihir; Sharma, Bhushan; Kapoor, Shekhar; Mittal, Kumud; Parakkat, Nithin K; Shivappa, Anil B; Kaur, Ravleen

    2017-02-01

    Verrucous hyperplasia (VH) is a rare exophytic oral mucosal lesion which can transform into verrucous carcinoma (VC), its malignant but clinically similar counterpart. These entities can be distinguished by the lack of invasive growth in VH cases; as such, it is essential to include a margin with adequate depth when performing a biopsy of the epithelium of the lesion. We report an 80-year-old male patient who presented to the Bapuji Dental College & Hospital, Davangere, Karanataka, India, in 2011 with a warty whitish-pink growth on the inside of his cheek. The patient was treated with wide surgical excision of the lesion and a diagnosis of VH was made based on histopathological features. There was no evidence of recurrence at a five-year follow-up. This report highlights the histological variations, pathogenesis and differential diagnosis of VH.

  4. Fibroadenoma with "immature-like" type of usual ductal hyperplasia.

    Science.gov (United States)

    Bezić, Joško; Karaman, Ivana; Kunac, Nenad

    2016-01-01

    We herein report a case of the breast fibroadenoma with foci of so-called immature variant of the conventional ductal hyperplasia. This type of usual ductal hyperplasia is histologically characterised by encircling intraductal proliferation of large cells with pale to amphophilic cytoplasm and large nuclei which vary in shape and in staining quality of the chromatin. We showed here, using the cytokeratin immunohistochemistry, that the proliferating cells were not of immature but rather mature immunohistochemical phenotype. Because of the presented discordance between immature histology and mature immunohistological profile we suggest that this rare type of usual ductal hyperplasia should be called "immature-like".

  5. Maxillary sinus marrow hyperplasia in sickle cell anemia

    Energy Technology Data Exchange (ETDEWEB)

    Fernandez, M. [Dept. of Imaging, Children`s Hospital of Michigan, Detroit, MI (United States); Slovis, T.L. [Dept. of Imaging, Children`s Hospital of Michigan, Detroit, MI (United States); Whitten-Shurney, W. [Dept. of Pediatrics, Children`s Hospital of Michigan, Detroit, MI (United States)

    1995-11-01

    Marrow hyperplasia is a sequela of sickle cell anemia (SCA) and may be seen in the skull in children after 5 years of age. The facial bones, except for the mandible and orbits, are usually not involved. We report an unusual case of a 28-month-old black boy with SCA who presented with extensive marrow hyperplasia of the maxillary sinuses in addition to severe calvarial and mandibular changes. The imaging characteristics on CT (similar to other sites of marrow hyperplasia) and MR (low signal on both T{sub 1} and T{sub 2} sequences) should aid in making the correct diagnosis. (orig.)

  6. Diffusion tensor imaging (DTI) of desmoid tumours in familial adenomatous polyposis: Initial experience

    Energy Technology Data Exchange (ETDEWEB)

    Bhandari, Santosh, E-mail: s.bhandari10@imperial.ac.uk [Polyposis Registry, St. Mark' s Hospital, Watford Road, Harrow, Middlesex HA1 3UJ (United Kingdom); Sinha, Ashish, E-mail: asinha@imperial.ac.uk [Polyposis Registry, St. Mark' s Hospital, Watford Road, Harrow, Middlesex HA1 3UJ (United Kingdom); Tam, Emily, E-mail: Emily.wy.tam@gmail.com [Paul Strickland Scanner Centre, Mount Vernon Hospital, Northwood, Middlesex HA6 2RN (United Kingdom); Stirling, J. James, E-mail: james.stirling@stricklandscanner.org.uk [Paul Strickland Scanner Centre, Mount Vernon Hospital, Northwood, Middlesex HA6 2RN (United Kingdom); Simcock, Ian, E-mail: ian.simcock@stricklandscanner.org.uk [Paul Strickland Scanner Centre, Mount Vernon Hospital, Northwood, Middlesex HA6 2RN (United Kingdom); Clark, Sue, E-mail: s.clark8@nhs.net [Polyposis Registry, St. Mark' s Hospital, Watford Road, Harrow, Middlesex HA1 3UJ (United Kingdom); Goh, Vicky, E-mail: Vicky.goh@kcl.ac.uk [Division of Imaging Sciences and Biomedical Engineering, King' s College London, Imaging 2, Level 1, Lambeth Wing, St. Thomas' Hospital, Lambeth Palace Road, London, SE1 7EH (United Kingdom)

    2012-11-15

    Purpose: To assess the feasibility of diffusion tensor imaging (DTI) of desmoid tumours in familial adenomatous polyposis (FAP). Materials and methods: Following ethical approval and informed consent, FAP patients with desmoids underwent DTI. Fractional anisotropy (FA), relative anisotropy (RA) and apparent diffusion coefficient (ADC) were compared to control muscle using Mann-Whitney test; and to tumour site and signal intensity using one way analysis of variance (ANOVA). Imaging was repeated after 1 year. Results: 15 desmoids (6 intra-abdominal; 6 abdominal wall, 3 extra-abdominal; size range: 1.6-22.9 cm) were evaluated in 9 patients. DTI was successful in 12/15 desmoid tumours. Median (range) of RA, FA and ADC were 0.23 Multiplication-Sign 10{sup -3} mm{sup 2}/s (0.17-0.26); 0.27 Multiplication-Sign 10{sup -3} mm{sup 2}/s (0.21-0.31); and 1.65 Multiplication-Sign 10{sup -3} mm{sup 2}/s (1.39-1.91) for desmoids, significantly different from muscle: 0.27 Multiplication-Sign 10{sup -3} mm{sup 2}/s (0.23-0.40), 0.32 Multiplication-Sign 10{sup -3} mm{sup 2}/s (0.28-0.46), and 1.45 Multiplication-Sign 10{sup -3} mm{sup 2}/s (0.92-1.63) (p = 0.0001, p = 0.0001, p = 0.0016, respectively). There was no difference in RA, FA or ADC between tumour sites, or signal intensity (p > 0.05). One year later, 2 patients had died. Tumour increased in size in 1 patient (+61%). DTI quantification was possible in only 8/13 tumours. FA, RA and ADC were not significantly different from baseline (p = 0.77, 0.71 and 0.34, respectively). Conclusions: Assessment of water diffusion has the potential to provide insight into tumour microstructure and is feasible in desmoids. Desmoid tumours demonstrate anisotropy but diffusion is less restricted and less directional than in muscle.

  7. APC gene mutations in individuals with possible attenuated familial adenomatous polyposis coli

    Energy Technology Data Exchange (ETDEWEB)

    Frayling, J.M.; Talbot, J.; Harocopos, C.A. [Imperial Cancer Research Fund Colorectal Cancer Unit, London (United Kingdom)] [and others

    1994-09-01

    Spirio et al. have described an attenuated form of familial adenomatous polyposis (FAP) termed AAPC, where affected individuals have been found to have mutations in exons 3 & 4 of the APC gene. AAPC expression within a family appears to be extremely variable and can overlap clinically with FAP, giving rise to between zero and a few hundred adenomas. The phenotypic range associated with AAPC mutations is undefined and the frequency in the population of such alleles of the APC gene is unknown. In addition, it is as yet unclear how many cases of sporadic colorectal adenomas might have AAPC. In order to address this we have identified 110 individuals having a phenotype compatible with a diagnosis of AAPC, in three groups: (1) 30 individuals (15m, 15f; median age = 55y, range 8-71y) with some or all of the following: colonic adenomas (28 cases); colorectal cancer (12 cases); extra-colonic features of FAP, either desmoid tumours (4 cases, including 2 without colonic adenomas) or sebaceous cysts (2 cases). Sixteen cases had a family history of adenomas/colorectal cancer/extra-colonic features of FAP. (2) 16 individuals (10m, 6f) from the St. Mark`s Polyposis Registry, diagnosed with FAP (including a family history), who had unusually few adenomas (median = 200) at colectomy (median age = 43y, range 17-62y). (3) 64 individuals (43m, 21f) from the St. Mark`s Hospital Adenoma Follow-up Study who either had >4 adenomas at presentation (median total adenomas = 9), or >4 adenomas detected during follow-up (median total adenomas = 9). Genomic DNA was obtained from these individuals and exons 1-4 of the APC gene were amplified by PCR. Chemical cleavage of mismatch was used to screen for mutations, followed by sequencing if variant bands were found. Germ-line mutations have been identified in exons 3 and 4 in a proportion of these individuals, thus extending the clinical spectrum of phenotypes associated with mutations in this region of the APC gene.

  8. Electric current arising from unpolarized polyvinyl formal

    Indian Academy of Sciences (India)

    P K Khare; P L Jain; R K Pandey

    2000-10-01

    An appreciable electric current is observed in a system consisting of a polyvinyl formal (PVF) film in a sandwich configuration, in the temperature range 30–110°C. The maximum value of the current during first heating is found to be of the order of 10–10 A and its thermograms exhibit one transition (i.e. current peak) at around 60°C. The position of the current peak in thermal spectrum shifts with the heating rate. A temperature dependence of the open circuit voltage is also observed. The activation energy of the process responsible for the current is determined. The magnitude of the current is more in the case of dissimilar electrode systems. It is proposed that the electric current arising from unpolarized metal–polymer–metal system is a water activated phenomenon, which is influenced by the transitional changes of the polymer.

  9. Periorbital nodular fasciitis arising during pregnancy

    Directory of Open Access Journals (Sweden)

    Brandon N Phillips

    2014-01-01

    Full Text Available Nodular fasciitis (NF is a benign proliferation of fibroblasts and myofibroblasts that rarely occurs in the periorbital region. We report what we believe to be the first case of periorbital NF associated with pregnancy. A case of intravascular fasciitis, a NF variant, has been reported during pregnancy, but it was not located in the periorbital region. A weak presence of estrogen receptors has been reported in NF. This may make it more susceptible to the hormone-related changes during pregnancy and contribute to the development of the lesion by stimulating fibroblasts and smooth muscle cell types. Although rare, NF should be considered in the differential diagnosis of periorbital soft-tissue masses arising during pregnancy.

  10. High grade angiosarcoma arising in fibroadenoma

    Directory of Open Access Journals (Sweden)

    Babarović Emina

    2011-12-01

    Full Text Available Abstract Primary angiosarcoma of the breast is a rare tumour that account for fewer than 0.05% of all malignant mammary tumours. Angiosarcoma may have an perfidious clinical onset. Radiologic findings are often nonspecific and may appear completely normal in one-third of cases with primary angiosarcoma. The prognosis is usually poor because of the high rates of local recurrence and early development of metastases. Aggressive surgical resection is the mainstay of treatment. The role of adjuvant therapy has not yet been well established. Here we present a case of a 53 year old, postmenopausal women with primary angiosarcoma arising in fibroadenoma. To our knowledge, this is the first case described in the literature to date.

  11. Juxtacortical chondromyxoid fibroma arising in an apophysis

    Energy Technology Data Exchange (ETDEWEB)

    Park, Seong Ho; Kong, Keun Young; Chung, Hye Won; Kang, Heung Sik [Dept. of Radiology, Seoul National University College of Medicine (Korea); Kim, Chong Jai [Dept. of Pathology, Seoul National University College of Medicine, Seoul (Korea); Lee, Sang Hoon [Dept. of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul (Korea)

    2000-08-01

    We present a rare case of juxtacortical chondromyxoid fibroma arising in the lesser trochanter of the right femur which corresponds to an apophysis. Radiography showed a well-defined expansive lesion with a sclerotic margin measuring 5 x 3.5 cm in diameter in the lesser trochanter. On spin echo T1-weighted images, the lesion revealed low signal intensity similar to muscle. On spin echo T2-weighted images, the lesion revealed high heterogeneous signal intensity, which after gadolinium injection showed heterogeneous enhancement. The inner margin of the cortex was intact and adjacent bone marrow was of normal signal intensity. The outer margin of the lesion was also clearly defined and extension into adjacent soft tissue beyond the exophytic cortical outgrowth was not evident. (orig.)

  12. Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes : the worst of two worlds

    NARCIS (Netherlands)

    Scheenstra, R; Rijcken, FEM; Koornstra, JJ; Hollema, H; Fodde, R; Menko, FH; Sijmons, RH; Bijleveld, CMA; Kleibeuker, JH

    2003-01-01

    The two most common inherited forms of colorectal cancer are familial adenomatous polyposis and hereditary non-polyposis colorectal cancer. Simultaneous inheritance of both an APC gene mutation and a mismatch repair gene (for example, MLH1) mutation has never been described. In the present case repo

  13. Rapidly progressive adenomatous polyposis in a patient with germline mutations in both the APC and MLH1 genes: the worst of two worlds.

    NARCIS (Netherlands)

    Scheenstra, R; Rijcken, FE; Koornstra, JJ; Hollema, H; Fodde, R; Menko, F.H.; Sijmons, RH; Bijleveld, CM; Kleibeuker, J.H.

    2003-01-01

    The two most common inherited forms of colorectal cancer are familial adenomatous polyposis and hereditary non-polyposis colorectal cancer. Simultaneous inheritance of both an APC gene mutation and a mismatch repair gene (for example, MLH1) mutation has never been described. In the present case repo

  14. Effects of intervention with sulindac and inulin/VSL#3 on mucosal and luminal factors in the pouch of patients with familial adenomatous polyposis

    NARCIS (Netherlands)

    Friederich, P.; Verschuur, J.; Heumen, B.W. van; Schaap-Roelofs, H.M.J.; Berkhout, M.; Nagtegaal, I.D.; Oijen, M.G.H. van; Krieken, J.H. van; Peters, W.H.M.; Nagengast, F.M.

    2011-01-01

    BACKGROUND/AIM: In order to define future chemoprevention strategies for adenomas or carcinomas in the pouch of patients with familial adenomatous polyposis (FAP), a 4-weeks intervention with (1) sulindac, (2) inulin/VSL#3, and (3) sulindac/inulin/VSL#3 was performed on 17 patients with FAP in a sin

  15. Targeted deletion of the C-terminus of the mouse adenomatous polyposis coli tumor suppressor results in neurologic phenotypes related to schizophrenia

    NARCIS (Netherlands)

    T. Onouchi (Takanori); K. Kobayashi (Kumiko); D.S. Sakai (Debbie); A. Shimomura (Atsushi); M.J.M. Smits (Ron); C. Sumi-Ichinose (Chiho); M. Kurosumi (Masafumi); M. Takao (Masashi); R. Nomura (Ryuji); A. Iizuka-Kogo (Akiko); H. Suzuki (Hidekazu); K. Kondo; T. Akiyama (Tetsu); T. Miyakawa (Tsuyoshi); R. Fodde (Riccardo); T. Senda (Takao)

    2014-01-01

    textabstractBackground: Loss of adenomatous polyposis coli (APC) gene function results in constitutive activation of the canonical Wnt pathway and represents the main initiating and rate-limiting event in colorectal tumorigenesis. APC is likely to participate in a wide spectrum of biological functio

  16. Clinical characteristics and outcomes in familial adenomatous polyposis patients with a long-term treatment of celecoxib: a matched cohort study

    DEFF Research Database (Denmark)

    Huang, Kui; Gutierrez, Lia P; Bülow, Steffen

    2011-01-01

    Familial adenomatous polyposis (FAP) is a rare genetic disease. Without treatment, FAP patients have a 100% lifetime risk of developing colorectal cancer. This study was conducted to evaluate the effect of celecoxib treatment in prolonging the time to FAP-related events and to document the safety...

  17. New Developments in Our Understanding of Neointimal Hyperplasia.

    Science.gov (United States)

    Lee, Timmy; Ul Haq, Naveed

    2015-11-01

    The vascular access remains the lifeline for the hemodialysis patient. The most common etiology of vascular access dysfunction is venous stenosis at the vein-artery anastomosis in arteriovenous fistula and at the vein-graft anastomosis in arteriovenous grafts (AVG). This stenotic lesion is typically characterized on histology as aggressive venous neointimal hyperplasia in both arteriovenous fistula and AVG. In recent years, we have advanced our knowledge and understanding of neointimal hyperplasia in vascular access and begun testing several novel therapies. This article will (1) review recent developments in our understanding of the pathophysiology of neointimal hyperplasia development in AVG and fistula failure, (2) discuss atypical factors leading to neointimal hyperplasia development, (3) highlight key novel therapies that have been evaluated in clinical trials, and (4) discuss future opportunities and challenges to improve our understanding of vascular access dysfunction and translate this knowledge into novel and innovative therapies.

  18. Rare Posterior Pharyngeal Mass: Atypical Marginal Zone Hyperplasia.

    Science.gov (United States)

    Eliçora, Sultan Şevik; Güven, Mehmet; Varli, Ali F; Yilmaz, Mahmut S; Alponat, Selin

    2016-03-01

    Cases of posterior pharyngeal masses are quite rare, and are typically derived from schwannoma or encephalocele, or are of vascular or infectious origin. They are clinically significant due to their tendency to cause airway obstruction. The aim of this study was to present a rare atypical marginal hyperplasia case of a posterior pharyngeal wall mass. A 10-year-old male was admitted to our clinic with dyspnea. A plane-surfaced 4 × 3 × 3 cm mass was observed on the posterior pharyngeal wall upon physical examination. The patient underwent magnetic resonance imaging and surgical treatment. Following excision of material from the patient's mass, a pathologic diagnosis of atypical marginal zone hyperplasia was made. Atypical marginal zone hyperplasia of the posterior pharyngeal wall has not yet been reported in the literature. Marginal zone hyperplasia associated with a lymphoproliferative disease should be considered when making differential diagnoses of posterior pharyngeal wall masses.

  19. Axon and muscle spindle hyperplasia in the myostatin null mouse.

    Science.gov (United States)

    Elashry, Mohamed I; Otto, Anthony; Matsakas, Antonios; El-Morsy, Salah E; Jones, Lisa; Anderson, Bethan; Patel, Ketan

    2011-02-01

    Germline deletion of the myostatin gene results in hyperplasia and hypertrophy of the tension-generating (extrafusal) fibres in skeletal muscle. As this gene is expressed predominantly in myogenic tissues it offers an excellent model with which to investigate the quantitative relationship between muscle and axonal development. Here we show that skeletal muscle hyperplasia in myostatin null mouse is accompanied by an increase in nerve fibres in major nerves of both the fore- and hindlimbs. We show that axons within these nerves undergo hypertrophy. Furthermore, we provide evidence that the age-related neural atrophic process is delayed in the absence of myostatin. Finally, we show that skeletal muscle hyperplasia in the myostatin null mouse is accompanied by an increase in the number of muscle spindles (also called stretch receptors or proprioceptors). However, our work demonstrates that the mechanisms regulating intrafusal fibre hyperplasia and hypertrophy differ from those that control the aetiology of extrafusal fibres.

  20. Ortho-surgical management of condylar hyperplasia: Rare case reports.

    Science.gov (United States)

    Singh, Virendra; Verma, Ajay; Attresh, Gyanander; Batra, Jitender

    2014-01-01

    Condylar hyperplasia of the mandible is a clinical condition of over-development and growth because of excessive cellular growth of one condylar part of the mandible leading to facial asymmetry, mandibular deviation and enlargement of condyle. The elongation of the condylar neck in turn leads to malocclusion and articular dysfunction. In the past the interceptive and corrective procedures of growth and deformity in condylar hyperplasia were either condylectomy or high condylotomy. However, the deformity ceases after growth is completed. Therefore, other surgical procedures have to be undertaken to correct the manifested deformity of condylar hyperplasia. Further it has to be stressed that no single procedure can completely correct the deformity. So in addition to condylectomy, other orthognathic surgical procedures both on body and ramus and also on maxilla can be undertaken to correct the canting of occlusion. Two rare cases of unilateral hyperplasia encountered in our hospital are presented which required different lines of treatment.

  1. Reversible hard palate hyperplasia associated with amlodipine use: case report.

    Science.gov (United States)

    Wang, Xinwen; Liu, Qing; Dong, Guangying; Wang, Qintao

    2016-09-01

    Calcium channel blockers (CCBs) are medications often used in the clinical management of hypertension and coronary artery disease. Gingival enlargement is a common side effect of CCB administration with no other oral tissue hyperplasia being reported. Thus, gingival enlargement is considered to be a tissue-specific side effect of CCBs. Here, we report for the first time a case of CCB-related palate hyperplasia in a patient suffering from oral lichen planus and the possible reasons for its occurrence.

  2. Clinical associations of hepatic stellate cell (HSC) hyperplasia.

    Science.gov (United States)

    Mounajjed, Taofic; Graham, Rondell P; Sanderson, Schuyler O; Smyrk, Thomas C

    2014-07-01

    Hepatic stellate cell (HSC) hyperplasia has been principally attributed to hypervitaminosis A. There are sporadic reports of HSC hyperplasia in other conditions such as chronic biliary disease and hepatitis C, but clinical associations of this entity have not been studied in detail. We aimed to investigate the clinical associations of HSC hyperplasia aside from hypervitaminosis A. We identified 34 patients whose liver histology showed HSC hyperplasia. We reviewed the liver samples; additional histologic findings in addition to HSC hyperplasia were consolidated into a histologic diagnosis. We collected clinical, laboratory, and radiologic data; the histologic diagnosis was combined with this data to reach an "overall diagnosis." Four patients had hypervitaminosis A (all native livers). In native livers (n = 24), HSC hyperplasia also occurred in association with drug-induced hepatitis [n = 6, niacin was the most common inducing agent (n = 3)], reactive hepatitis (n = 4), chronic hepatitis C (n = 4), autoimmune hepatitis (n = 3), steatohepatitis (n = 1), chronic biliary disease (n = 1), and portal venopathy (n = 1). In liver allografts (n = 10), HSC hyperplasia was seen in protocol biopsies without other significant abnormalities (n = 5), chronic biliary disease (n = 4), and acute cellular rejection (n = 1). All patients used medications (total of 99) and 82 % were on multiple medications. HSC hyperplasia is an uncommon and relatively nonspecific finding that most commonly occurs in multimedicated patients, often in the absence of hypervitaminosis A. Associated conditions include drug toxicity (such as niacin), post-liver transplant setting, reactive hepatitis (due to systemic illness or inflammatory disorders of the gastrointestinal tract), and chronic liver disease.

  3. Paediatric cyclical Cushing's disease due to corticotroph cell hyperplasia.

    LENUS (Irish Health Repository)

    Noctor, E

    2015-06-01

    Cushing\\'s disease is very rare in the paediatric population. Although uncommon, corticotroph hyperplasia causing Cushing\\'s syndrome has been described in the adult population, but appears to be extremely rare in children. Likewise, cyclical cortisol hypersecretion, while accounting for 15 % of adult cases of Cushing\\'s disease, has only rarely been described in the paediatric population. Here, we describe a very rare case of a 13-year old boy with cyclical cortisol hypersecretion secondary to corticotroph cell hyperplasia.

  4. A Rare Case of Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia

    OpenAIRE

    Godwin Ofikwu; Mani, Vishnu R.; Ajai Rajabalan; Albert Adu; Leaque Ahmed; Dennis Vega

    2015-01-01

    Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare clinical condition with only about 100 cases reported in the literature. It is characterized by primary hyperplasia of pulmonary neuroendocrine cells (PNECs) which are specialized epithelial cells located throughout the entire respiratory tract, from the trachea to the terminal airways. DIPNECH appears in various forms that include diffuse proliferation of scattered neuroendocrine cells, small nodules, or a linea...

  5. Proteus syndrome: MRI characteristics of plantar cerebriform hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Vanhoenacker, F.M.; Beuckeleer, L.H. de; Schepper, A.M. de [Dept. of Radiology, University Hospital Antwerp, Edegem (Belgium); Deprettere, A. [Dept. of Pediatrics, University Hospital Antwerp, Edegem (Belgium); Moor, A. de [Dept. of Dermatology, Univ. Hospital Antwerp, Edegem (Belgium)

    2000-02-01

    Proteus syndrome is a rare congenital hamartomatous syndrome with a variety of abnormalities. It shares many features with other congenital hamartomatous disorders, but cerebriform hyperplasia of the soles and the palms is known as a quite distinctive characteristic in the dermatologic literature. The purpose of this case report is to demonstrate the MRI features of plantar cerebriform hyperplasia in a 9-year-old boy with known Proteus syndrome. (orig.)

  6. Oral focal epithelial hyperplasia: report of five cases

    OpenAIRE

    Borborema-Santos,Cristina Maria; Castro,Maria Marta de; Santos,Paulo José Benevides dos; Talhari,Sinésio; Astolfi-Filho, Spartaco

    2006-01-01

    Focal epithelial hyperplasia or Heck's disease is a rare contagious disease caused by human papillomavirus types 13 or 32, initially described among Native American populations. This condition is characterized by the occurrence of multiple small papules or nodules in oral cavity, especially on labial and buccal mucosa and tongue. This report describes the diagnosis of focal epithelial hyperplasia in five Central Amazonian Indians who sought treatment at the Amazonas State Foundation of Tropic...

  7. Focal epithelial hyperplasia. A rare disease in our area.

    Science.gov (United States)

    Segura-Saint-Gerons, Rafael; Toro-Rojas, Mariano; Ceballos-Salobreña, Alejandro; Aparicio-Soria, Jose Luis; Fuentes-Vaamonde, Helena

    2005-01-01

    Focal epithelial hyperplasia is a benign, asymptomatic disease, occurring with very low frequency within our population. It appears as papules, principally on the lower lip, although it can also be found on the retro-commissural mucosa and tongue, and less frequently on the upper lip, gingiva and palate. We present the clinical case of a 9-year-old Saharan girl with lesions that clinically and histologically corresponded to a focal epithelial hyperplasia.

  8. [Chemical hazards arising from shale gas extraction].

    Science.gov (United States)

    Pakulska, Daria

    2015-01-01

    The development of the shale industry is gaining momentum and hence the analysis of chemical hazards to the environment and health of the local population is extreiely timely and important. Chemical hazards are created during the exploitation of all minerals, but in the case of shale gas production, there is much more uncertainty as regards to the effects of new technologies application. American experience suggests the increasing risk of environmental contamination, mainly groundwater. The greatest, concern is the incomplete knowledge of the composition of fluids used for fracturing shale rock and unpredictability of long-term effects of hydraulic fracturing for the environment and health of residents. High population density in the old continent causes the problem of chemical hazards which is much larger than in the USA. Despite the growing public discontent data on this subject are limited. First of all, there is no epidemiological studies to assess the relationship between risk factors, such as air and water pollution, and health effects in populations living in close proximity to gas wells. The aim of this article is to identify and discuss existing concepts on the sources of environmental contamination, an indication of the environment elements under pressure and potential health risks arising from shale gas extraction.

  9. Thick Brane Worlds Arising From Pure Geometry

    CERN Document Server

    Cardenas, R; Cardenas, Rolando; Quiros, Israel

    2002-01-01

    We study a non-Riemannian modification of 5-dimensional Kaluza-Klein theory. In our proposal the Riemannian structure of the five-dimensional manifold is replaced by a Weyl-integrable one. In this context a 4-dimensional Poincar$\\grave{e}$ invariant solution is studied. A spacetime structure with two thick (smooth) branes separated in the extra dimension arises. The massless graviton is located in one of the thick branes at the origin, meanwhile the matter degrees of freedom are confined to the other brane. Due to the small overlap of the graviton's wave-function with the second thick brane, the model accounts for a resolution of the mass hierarchy problem a la Randall-Sundrum. Although, initially, no assumptions are made about the topology of the extra dimension, the solution found yields an extra space that is effectivelly compact and respects $Z_2$ symmetry. Unlike other models with branes, the spectrum of massive Kaluza-Klein states is quantized and free of tachyonic modes.

  10. Chemical hazards arising from shale gas extraction

    Directory of Open Access Journals (Sweden)

    Daria Pakulska

    2015-02-01

    Full Text Available The development of the shale industry is gaining momentum and hence the analysis of chemical hazards to the environment and health of the local population is extremely timely and important. Chemical hazards are created during the exploitation of all minerals, but in the case of shale gas production, there is much more uncertainty as regards to the effects of new technologies application. American experience suggests the increasing risk of environmental contamination, mainly groundwater. The greatest concern is the incomplete knowledge of the composition of fluids used for fracturing shale rock and unpredictability of long-term effects of hydraulic fracturing for the environment and health of residents. High population density in the old continent causes the problem of chemical hazards which is much larger than in the USA. Despite the growing public discontent data on this subject are limited. First of all, there is no epidemiological studies to assess the relationship between risk factors, such as air and water pollution, and health effects in populations living in close proximity to gas wells. The aim of this article is to identify and discuss existing concepts on the sources of environmental contamination, an indication of the environment elements under pressure and potential health risks arising from shale gas extraction. Med Pr 2015;66(1:99–117

  11. Cutaneous leiomyosarcoma arising in a smallpox scar

    Directory of Open Access Journals (Sweden)

    Pol Robert A

    2012-07-01

    Full Text Available Abstract Background Cutaneous leiomyosarcoma (CLM is a very rare smooth muscle tumour that accounts for about 2–3% of all superficial soft tissue sarcomas. Although the development of various malignancies in scar tissue is well known, we report the first case of a CLM developing in a small pox scar. Case presentation A 66-year-old man presented with a painless, slow-growing lump in a small pox scar on his left shoulder. Histological biopsies showed the lesion to be a primary, well-differentiated cutaneous leiomyosarcoma. A CT scan of the thorax was conducted, which showed no signs of metastases. The complete lesion was then surgically excised, and histopathological examination revealed a radically excised cutaneous type leiomyosarcoma After 13 months’ review the patient was doing well with no evidence of tumour recurrence. Conclusions This is the first report of a CLM arising in a small pox scar. Although the extended time interval between scarring and malignant changes makes it difficult to advise strict follow-up for patients with small pox scars, one should be aware that atypical changes and/or symptoms occurring in a small pox scar could potentially mean malignant transformation.

  12. Cutaneous leiomyosarcoma arising in a smallpox scar.

    Science.gov (United States)

    Pol, Robert A; Dannenberg, Hilde; Robertus, Jan-Lukas; van Ginkel, Robert J

    2012-07-16

    Cutaneous leiomyosarcoma (CLM) is a very rare smooth muscle tumour that accounts for about 2-3% of all superficial soft tissue sarcomas. Although the development of various malignancies in scar tissue is well known, we report the first case of a CLM developing in a small pox scar. A 66-year-old man presented with a painless, slow-growing lump in a small pox scar on his left shoulder. Histological biopsies showed the lesion to be a primary, well-differentiated cutaneous leiomyosarcoma. A CT scan of the thorax was conducted, which showed no signs of metastases. The complete lesion was then surgically excised, and histopathological examination revealed a radically excised cutaneous type leiomyosarcoma After 13 months' review the patient was doing well with no evidence of tumour recurrence. This is the first report of a CLM arising in a small pox scar. Although the extended time interval between scarring and malignant changes makes it difficult to advise strict follow-up for patients with small pox scars, one should be aware that atypical changes and/or symptoms occurring in a small pox scar could potentially mean malignant transformation.

  13. Quantum discord of states arising from graphs

    Science.gov (United States)

    Dutta, Supriyo; Adhikari, Bibhas; Banerjee, Subhashish

    2017-08-01

    Quantum discord refers to an important aspect of quantum correlations for bipartite quantum systems. In our earlier works, we have shown that corresponding to every graph (combinatorial) there are quantum states whose properties are reflected in the structure of the corresponding graph. Here, we attempt to develop a graph theoretic study of quantum discord that corresponds to a necessary and sufficient condition of zero quantum discord states which says that the blocks of density matrix corresponding to a zero quantum discord state are normal and commute with each other. These blocks have a one-to-one correspondence with some specific subgraphs of the graph which represents the quantum state. We obtain a number of graph theoretic properties representing normality and commutativity of a set of matrices which are indeed arising from the given graph. Utilizing these properties, we define graph theoretic measures for normality and commutativity that results in a formulation of graph theoretic quantum discord. We identify classes of quantum states with zero discord using the developed formulation.

  14. An organism arises from every nucleus.

    Directory of Open Access Journals (Sweden)

    Nurullah Keklikoglu

    2009-12-01

    Full Text Available The fact that, cloning using somatic cell nuclear transfer (SCNT method has been performed, opened new horizons for cloning, and changed the way of our understanding and approach to cell and nucleus. The progress in cloning technology, brought the anticipation of the ability to clone an organism from each somatic cell nucleus. Therefore, the 'Cell Theory' is about to take the additional statement as "An organism arises from every nucleus". The development of gene targeting procedures which can be applied with SCNT, showed us that it may be possible to obtain different versions of the original genetic constitution of a cell. Because of this opportunity which is provided by SCNT, in reproductive cloning, it would be possible to clone enhanced organisms which can adapt to different environmental conditions and survive. Furthermore, regaining the genetic characteristics of ancestors or reverse herediter variations would be possible. On the other hand, in therapeutic cloning, more precise and easily obtainable alternatives for cell replacement therapy could be presented. However, while producing healthier or different organisms from a nucleus, it is hard to foresee the side effects influencing natural processes in long term is rather difficult.

  15. Chemerin Stimulates Vascular Smooth Muscle Cell Proliferation and Carotid Neointimal Hyperplasia by Activating Mitogen-Activated Protein Kinase Signaling

    Science.gov (United States)

    Xiong, Wei; Luo, Yu; Wu, Lin; Liu, Feng; Liu, Huadong; Li, Jianghua; Liao, Bihong; Dong, Shaohong

    2016-01-01

    Vascular neointimal hyperplasia and remodeling arising from local inflammation are characteristic pathogeneses of proliferative cardiovascular diseases, such as atherosclerosis and post angioplasty restenosis. The molecular mechanisms behind these pathological processes have not been fully determined. The adipokine chemerin is associated with obesity, metabolism, and control of inflammation. Recently, chemerin has gained increased attention as it was found to play a critical role in the development of cardiovascular diseases. In this study, we investigated the effects of chemerin on the regulation of vascular smooth muscle cells and carotid neointimal formation after angioplasty. We found that circulating chemerin levels increased after carotid balloon injury, and that knockdown of chemerin significantly inhibited the proliferative aspects of vascular smooth muscle cells induced by platelet-derived growth factor-BB and pro-inflammatory chemokines in vitro as well as prohibited carotid neointimal hyperplasia and pro-inflammatory chemokines in vivo after angioplasty. Additionally, inhibition of chemerin down-regulated the expression of several proteins, including phosphorylated p38 mitogen-activated protein kinase, phosphorylated extracellular signal regulated kinase 1/2, nuclear factor-kappa B p65, and proliferation cell nuclear antigen. The novel finding of this study is that chemerin stimulated vascular smooth muscle cells proliferation and carotid intimal hyperplasia through activation of the mitogen-activated protein kinase signaling pathway, which may lead to vascular inflammation and remodeling, and is relevant to proliferative cardiovascular diseases. PMID:27792753

  16. A rare case of angiolymphoid hyperplasia with eosinophilia in the submental region

    Directory of Open Access Journals (Sweden)

    Priya Singh

    2013-01-01

    Full Text Available Angiolymphoid hyperplasia with eosinophilia is a rare reactive, angio-proliferative lesion which is usually found in the subcutaneous tissue of the head and neck. The lesion rarely arises from a native blood vessel. It is of unknown etiology but may be related to some benign, localized form of vasculitis. While preauricular location is the most frequent site of occurrence as reported in literature, a lesion in submental region seems to be a first reported site of occurrence. We report such an occurrence in an individual with history of trauma twice in his lifetime at the affected site. Spontaneous regression is common, but persistent or recurrent lesions may require treatment. Several treatments have been reported but surgery is considered to be the most efficient one.

  17. Cinacalcet HCl prevents development of parathyroid gland hyperplasia and reverses established parathyroid gland hyperplasia in a rodent model of CKD.

    Science.gov (United States)

    Miller, Gerald; Davis, James; Shatzen, Edward; Colloton, Matthew; Martin, David; Henley, Charles M

    2012-06-01

    Secondary hyperparathyroidism (sHPT) represents an adaptive response to progressively impaired control of calcium, phosphorus and vitamin D in chronic kidney disease (CKD). It is characterized by parathyroid hyperplasia and excessive synthesis and secretion of parathyroid hormone (PTH). Parathyroid hyperplasia in uremic rats can be prevented by calcium-sensing receptor (CaSR) activation with the calcimimetic cinacalcet (Sensipar®/Mimpara®); however, it is unknown, how long the effects of cinacalcet persist after withdrawal of treatment or if cinacalcet is efficacious in uremic rats with established sHPT. We sought to determine the effect of cinacalcet discontinuation in uremic rats and whether cinacalcet was capable of influencing parathyroid hyperplasia in animals with established sHPT. Discontinuation of cinacalcet resulted in reversal of the beneficial effects on serum PTH and parathyroid hyperplasia. In rats with established sHPT, cinacalcet decreased serum PTH and mediated regression of parathyroid hyperplasia. The cinacalcet-mediated decrease in parathyroid gland size was accompanied by increased expression of the cyclin-dependent kinase inhibitor p21. Prevention of cellular proliferation with cinacalcet occurred despite increased serum phosphorus and decreased serum calcium. The animal data provided suggest established parathyroid hyperplasia can be reversed by modulating CaSR activity with cinacalcet and that continued treatment may be necessary to maintain reductions in PTH.

  18. Cinacalcet HCl prevents development of parathyroid gland hyperplasia and reverses established parathyroid gland hyperplasia in a rodent model of CKD

    Science.gov (United States)

    Miller, Gerald; Davis, James; Shatzen, Edward; Colloton, Matthew; Martin, David

    2012-01-01

    Background. Secondary hyperparathyroidism (sHPT) represents an adaptive response to progressively impaired control of calcium, phosphorus and vitamin D in chronic kidney disease (CKD). It is characterized by parathyroid hyperplasia and excessive synthesis and secretion of parathyroid hormone (PTH). Parathyroid hyperplasia in uremic rats can be prevented by calcium-sensing receptor (CaSR) activation with the calcimimetic cinacalcet (Sensipar®/Mimpara®); however, it is unknown, how long the effects of cinacalcet persist after withdrawal of treatment or if cinacalcet is efficacious in uremic rats with established sHPT. Methods. We sought to determine the effect of cinacalcet discontinuation in uremic rats and whether cinacalcet was capable of influencing parathyroid hyperplasia in animals with established sHPT. Results. Discontinuation of cinacalcet resulted in reversal of the beneficial effects on serum PTH and parathyroid hyperplasia. In rats with established sHPT, cinacalcet decreased serum PTH and mediated regression of parathyroid hyperplasia. The cinacalcet-mediated decrease in parathyroid gland size was accompanied by increased expression of the cyclin-dependent kinase inhibitor p21. Prevention of cellular proliferation with cinacalcet occurred despite increased serum phosphorus and decreased serum calcium. Conclusions. The animal data provided suggest established parathyroid hyperplasia can be reversed by modulating CaSR activity with cinacalcet and that continued treatment may be necessary to maintain reductions in PTH. PMID:22036941

  19. Nanog induces hyperplasia without initiating tumors

    Directory of Open Access Journals (Sweden)

    Gerrit Fischedick

    2014-09-01

    Full Text Available Though expression of the homeobox transcription factor Nanog is generally restricted to pluripotent cells and early germ cells, many contradictory reports about Nanog's involvement in tumorigenesis exist. To address this, a modified Tet-On system was utilized to generate Nanog-inducible mice. Following prolonged Nanog expression, phenotypic alterations were found to be restricted to the intestinal tract, leaving other major organs unaffected. Intestinal and colonic epithelium hyperplasia was observed—intestinal villi had doubled in length and hyperplastic epithelium outgrowths were seen after 7 days. Increased proliferation of crypt cells and downregulation of the tumor suppressors Cdx2 and Klf4 was detected. ChIP analysis showed physical interaction of Nanog with the Cdx2 and Klf4 promoters, indicating a regulatory conservation from embryonic development. Despite downregulation of tumor suppressors and increased proliferation, ectopic Nanog expression did not lead to tumor formation. We conclude that unlike other pluripotency-related transcription factors, Nanog cannot be considered an oncogene.

  20. Treating benign prostatic hyperplasia with botulinum neurotoxin.

    Science.gov (United States)

    Brisinda, G; Vanella, S; Marniga, G; Crocco, A; Maria, G

    2011-01-01

    Botulinum toxin (BoNT) has been increasingly used in the interventional treatment of several disorders; the use of this agent has extended to a plethora of conditions including focal dystonia, spasticity, inappropriate contraction in most gastrointestinal sphincters, eye movement disorders, hyperhidrosis, genitourinary disorders and aesthetically undesirable hyperfunctional facial lines. In addition, BoNT is being investigated for the control of pain, and for the management of tension or migraine headaches and myofascial pain syndrome. Benign prostatic hyperplasia (BPH) is a common condition in ageing men; the goal of therapy is to reduce the lower urinary tract symptoms (LUTS) associated with BPH and to improve the quality of life. However, medical treatment, including drugs that relax smooth muscle within the prostate and drugs that shrink the gland are not totally effective or without complications. The standard surgical treatment for BPH is progressively changing to minimally invasive therapies, but none of them has provided clear results. The use of BoNT-A to inhibit the autonomic efferent effects on prostate growth and contraction, and inhibit the abnormal afferent effects on prostate sensation, might be an alternative treatment for BPH. BoNT injections have several advantages over drugs and surgical therapies in the management of intractable or chronic disease; systemic pharmacologic effects are rare, permanent destruction of tissue does not occur, and graded degrees of relaxation may be achieved by varying the dose injected. In this paper, clinical experience over the last years with BoNT in BPH impaired patients will be illustrated.

  1. Nonclassical Congenital Adrenal Hyperplasia and Pregnancy

    Directory of Open Access Journals (Sweden)

    Neslihan Cuhaci

    2015-01-01

    Full Text Available Objective. The most common form of congenital adrenal hyperplasia (CAH is 21-hydroxylase (21-OH deficiency due to mutation of the CYP21A2 gene. Patients with nonclassical CAH (NC-CAH are usually asymptomatic at birth and typically present in late childhood, adolescence, or adulthood with symptoms of excessive androgen secretion. Subfertility is relative in NC-CAH, but the incidence of spontaneous miscarriage is higher. Here, we report a previously undiagnosed female who gave birth to a normal male child and is planning to become pregnant again. Case Report. A 32-year-old female was referred to our clinic for obesity. Her medical history revealed that she had had three pregnancies. She was planning to become pregnant again. Her laboratory results revealed that she had NC-CAH. Since her husband is the son of her aunt and she had miscarriages and intrauterin exitus in her history, their genetic analyses were performed. Conclusion. Since most patients with NC-CAH have a severe mutation, these patients may give birth to a child with the classical CAH (C-CAH if their partner is also carrying a severe mutation. Females with NC-CAH who desire pregnancy must be aware of the risk of having an infant with C-CAH.

  2. A case of congenital lipoid adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Mahin Hashemipour

    2012-01-01

    Full Text Available Lipoid congenital adrenal hyperplasia (lipoid CAH, a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a 28-day-old phenotypic female infant, which referred with lethargy, failure to thrive and electrolyte abnormalities. Considering the clinical and biochemical findings, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid and mineralocorticoid and sodium chloride was initiated. During follow-up, she had good clinical condition, but at 6 years of age, she refers with hypertension and adrenal insufficiency because of arbitrary drug discontinuation by mother. In ultrasonography an abdominal mass (the testicles was reported. Chromosome study showed 46XY pattern. Orchiectomy was performed. We recommended that in cases with clinical presentation of adrenal insufficiency if there is not the facility to determine the karyotype, repeated ultrasonography perform during follow-up. In addition, investigating the genetic bases of the disorder would help us to determine the pathogenesis of lipoid CAH in our community. It would be helpful in prenatal diagnosis and treatment of the disorder to prevent its related comorbidities.

  3. Transurethral electrochemical treatment of benign prostatic hyperplasia

    Institute of Scientific and Technical Information of China (English)

    张民; 龚侃; 李宁; 曾荔; 那彦群

    2003-01-01

    Objective To study the mechanism and feasibility of transurethral electrochemical therapy for the treatment of benign prostatic hyperplasia (BPH). Methods Between March 1998 and March 2000, specifically designed devices and catheters for electrochemical therapy were applied to 6 prostate specimens obtained by suprapubic prostatectomy in order to treat BPH patients with urinary retention for whom surgery was contraindicated. Sixteen patients (with a mean age of 77.3 years old) underwent electrical treatment totaling 160-220 coulombs under topical urethral anesthesia for 68-132 min. The catheters remained inside the patient for 7-10 d. Results Irreversible destructive changes occurred within cathodal tissue, while carbonization occurred within anodic tissue. The radius of tissue change was 7-8 mm and 1-2 mm, respectively. In vivo trial: 11 (69%) patients could be weaned off the catheters with satisfactory urination. Three months after therapy, the mean international prostate symptom score (IPSS) was 14.5, mean peak flow rate was 10.5 ml/s, and mean residual urine was 39 ml. No serious complications were observed. Conclusion Transurethral electrochemical treatment is potentially a minimally invasive alternative for treatment of BPH, especially for elderly patients at high risk.

  4. Transurethral microwave thermotherapy for benign prostatic hyperplasia

    Directory of Open Access Journals (Sweden)

    Rubeinstein Jonathan N.

    2003-01-01

    Full Text Available Transurethral resection of the prostate (TURP remains the gold standard for treatment of benign prostatic hyperplasia (BPH. In general, while this procedure is safe, patients require a spinal, epidural, or general anesthesia and often several days of hospital stay; the potential morbidity and mortality limits the use of TURP in high-risk patients. Pharmacotherapy has been recommended as a first-line therapy for all patients with mild to moderate symptoms. Patients are oftentimes enthusiastic if they are offered a one-time method to treat lower urinary tract symptoms secondary to BPH, provided that the method offers reduced risk and allows an efficacy equal to that of medical therapy. One such method is transurethral microwave thermotherapy (TUMT. TUMT involves the insertion of a specially designed urinary catheter with a microwave antenna, which heats the prostate and destroys hyperplastic prostate tissue. TUMT allows the avoidance of general or regional anesthesia, and results in minimal blood loss and fluid absorption. In this review, the authors discussed the current indications and outcome of TUMT, including the history of the procedure, the mechanism of action, the indications for TUMT, the pre-operative considerations, the patient selection, the results in terms of efficacy, by comparing TUMT vs. Sham, TUMT vs. Alpha-blocker and TUMT vs. TURP. Finally, the complications are presented, as well as other uses and future directions of the procedure. The authors concluded that TUMT is a safe and effective minimally invasive alternative to treatment of symptomatic BPH.

  5. Large extent of disorder in Adenomatous Polyposis Coli offers a strategy to guard Wnt signalling against point mutations.

    Directory of Open Access Journals (Sweden)

    David P Minde

    Full Text Available Mutations in the central region of the signalling hub Adenomatous Polyposis Coli (APC cause colorectal tumourigenesis. The structure of this region remained unknown. Here, we characterise the Mutation Cluster Region in APC (APC-MCR as intrinsically disordered and propose a model how this structural feature may contribute to regulation of Wnt signalling by phosphorylation. APC-MCR was susceptible to proteolysis, lacked α-helical secondary structure and did not display thermal unfolding transition. It displayed an extended conformation in size exclusion chromatography and was accessible for phosphorylation by CK1ε in vitro. The length of disordered regions in APC increases with species complexity, from C. elegans to H. sapiens. We speculate that the large disordered region harbouring phosphorylation sites could be a successful strategy to stabilise tight regulation of Wnt signalling against single missense mutations.

  6. Analysis of the depolarizing properties of normal and adenomatous polyps in colon mucosa for the early diagnosis of precancerous lesions

    Science.gov (United States)

    Ortega-Quijano, Noé; Fanjul-Vélez, Félix; de Cos-Pérez, Jesús; Arce-Diego, José Luis

    2011-09-01

    Optical characterization of biological tissues by means of polarimetric techniques is an area of growing interest. Polarized light can be used for malignant neoplasms detection. To our knowledge, few studies have so far focused on lesions that are prone to result in cancer. In this work we present a polarimetric study of depolarization in prepathological tissues. Specifically, we will focus on premalignant lesions in human colon due to their clinical relevance. Colonic adenoma, the potential precursor of malignant adenocarcinoma, provokes significant structural modifications in colon mucosa that affect light depolarization. The depolarizing properties of normal and adenomatous polyps mucosa are compared. The average linear degree of polarization is shown to present a strong dependence with the precancerous state of the colonic tissue. This method has the potential to enable an early diagnosis of colon cancer.

  7. Functional comparison of human adenomatous polyposis coli (APC and APC-like in targeting beta-catenin for degradation.

    Directory of Open Access Journals (Sweden)

    Jean Schneikert

    Full Text Available Truncating mutations affect the adenomatous polyposis coli (APC gene in most cases of colon cancer, resulting in the stabilization of β-catenin and uncontrolled cell proliferation. We show here that colon cancer cell lines express also the paralog APC-like (APCL or APC2. RNA interference revealed that it controls the level and/or the activity of β-catenin, but it is less efficient and binds less well to β-catenin than APC, thereby providing one explanation as to why the gene is not mutated in colon cancer. A further comparison indicates that APCL down-regulates the β-catenin level despite the lack of the 15R region known to be important in APC. To understand this discrepancy, we performed immunoprecipitation experiments that revealed that phosphorylated β-catenin displays a preference for binding to the 15 amino acid repeats (15R rather than the first 20 amino acid repeat of APC. This suggests that the 15R region constitutes a gate connecting the steps of β-catenin phosphorylation and subsequent ubiquitination/degradation. Using RNA interference and domain swapping experiments, we show that APCL benefits from the 15R of truncated APC to target β-catenin for degradation, in a process likely involving heterodimerization of the two partners. Our data suggest that the functional complementation of APCL by APC constitutes a substantial facet of tumour development, because the truncating mutations of APC in colorectal tumours from familial adenomatous polyposis (FAP patients are almost always selected for the retention of at least one 15R.

  8. Genetic alterations in thyroid carcinoma associated with familial adenomatous polyposis: clinical implications and suggestions for early detection.

    Science.gov (United States)

    Cetta, F; Olschwang, S; Petracci, M; Montalto, G; Baldi, C; Zuckermann, M; Mariani Costantini, R; Fusco, A

    1998-12-01

    Germ-line mutations of the adenomatous polyposis (APC) gene, responsible for familial adenomatous polyposis (FAP) were analyzed in 15 patients with FAP-associated papillary thyroid carcinomas: 13 had the mutation between codons 778 and 1309 (exon 15), 1 at codon 593 (exon 14), and 1 at codon 140 (exon 3). Therefore APC gene mutations clustered in the genomic area associated with congenital hypertrophy of the retinal pigment epithelium (CHRPE) (codons 463-1387). Ocular patches were documented in 12 patients. In particular, 4 of the 15 patients, all women with a mean age of 23.5 (range 20-32), were found during the study of 15 consecutive kindreds who had undergone systematic screening for extra-colonic manifestations. Three of them belonged to the same kindred and were asymptomatic. These four patients were also screened for loss of heterozygosity of APC in the thyroid tumoral tissue. No biallelic inactivation of the APC gene was found. In contrast, three of these four patients had activation of the ret-PTC oncogene. In particular, there was activation of the ret-PTC1 isoform, a chimeric gene resulting from fusion of a gene named H4 with the RET gene. On histologic examination, three of the four patients showed Hashimoto-like lymphocytic infiltration. Present data suggest that: (1) the incidence of FAP-associated thyroid cancer probably has been underestimated in the past; (2) intensive screening could detect a larger than expected number of thyroid carcinomas; (3) systematic screening is recommended in patients with ocular patches and genetic mutation in exon 15; (4) Hashimoto-like findings do not exclude carcinoma but are a frequent accompanying finding; (5) despite frequent multicentricity and early lymph node involvement, FAP-associated thyroid tumors seem to have an excellent prognosis, in particular those showing ret-PTC activation.

  9. Intravascular papillary endothelial hyperplasia of larynx: case report and literature review of all head and neck cases.

    Science.gov (United States)

    Tedla, Miroslav; Bežová, Miroslava; Biró, Csaba; Tedlová, Eva; Eng, Chee-Yean; Zeleník, Karol

    2014-01-01

    Intravascular papillary endothelial hyperplasia (IPEH) is a benign lesion of a vascular origin that is caused by excessive proliferation of endothelial cells in blood vessels or vascular malformations. It is a rare entity that can present in any region of the body, but with particular predilection to the head and neck region and the extremities. We also present the results of the English literature search, which to our knowledge are all the published cases of IPEH in the head and neck region (No=213). IPEH has not been reported to arise from the glottic region previously. We present a first case of IPEH arising from the vocal fold of a 48-year-old male. Histological differential diagnosis of IPEH includes several entities, most importantly angiosarcoma. Presentation and histology are discussed. The main treatment option is a complete surgical resection. Prognosis of IPEH is excellent, with the exception of some intracranial cases.

  10. Usefulness of sonohysterography in differentiating endometrial cancer from endometrial hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Eun Ju; Kim, Min Jung; Ryu, Hee Sug [Aju University School of Medicine, Suwon (Korea, Republic of)

    1999-06-15

    To characterize the sonohysterographic (SH) findings of endometrial hyperplasia and cancer and to determine the role of SH in differentiating endometrial cancer from hyperplasia. The clinical, pathologic and SH findings of 38 patients with histologically confirmed endometrial hyperplasia (n=21), atypical hyperplasia 9n=6), and cancer (n=11) were reviewed retrospectively. We evaluate the presence and morphologic characteristics 9 surface contour ehcogenicity, echotexture) of endometrial thickening and mass, obliteration of endometrial cavity, and disruption of endometrial-myometrial interface on SH. SH findings of endometrial hyperplasia were endometrial thickening in 17 cases (81%), mass in 8 cases (38%), and regular surface of endometrium and mass in 16 (76%) and 6 cases (75%) respectively. Obliteration of endometrial cavity was seen only in 3 cases (14%) of endometrial hyperplasia and 1 case (17%) of atypical hyperplasia and disruption of endometrial-myometrial interface was not seen. Endometrial cancer showed endometrial thickening in 6 cases (55%), mass in 7 cases (64%), irregular surface of endometrium and mass in 10 (91%) and 7 cases (100%) respectively, obliteration of endometrial cavity in 10 cases(91%), and disruption of endometrial-myometrial interface in 4 of 8 cases with myometrial invasion. Using endometrial thickening or mass with irregular surface and obliteration of endometrial cavity as the positive findings for SH diagnosis of endometrial cancer, we observed sensitivity of 90.9%, specificity of 85.2%, and accuracy of 86.8%. The demonstration of the irregular surface with endometrial thickening or mass and obliteration of endometrial cavity through SH were suggestive of endometrial cancer.

  11. Nodular regenerative hyperplasia rarely leads to liver transplantation : A 20-year cohort study in all Dutch liver transplant units

    NARCIS (Netherlands)

    Meijer, Berrie; Simsek, Melek; Blokzijl, Hans; de Man, Robert A.; Coenraad, Minneke J.; Dijkstra, Gerard; van Nieuwkerk, Carin M. J.; Mulder, Chris J. J.; de Boer, Nanne K. H.

    2017-01-01

    Background: Nodular regenerative hyperplasia is an uncommon liver condition associated with several autoimmune disorders and drugs. The clinical symptoms of nodular regenerative hyperplasia vary from asymptomatic to severe complications of portal hypertension (nodular regenerative hyperplasia-syndro

  12. Chromosomal aberrations in benign prostatic hyperplasia patients

    Directory of Open Access Journals (Sweden)

    Muammer Altok

    2016-01-01

    Full Text Available Purpose: To investigate the chromosomal changes in patients with benign prostatic hyperplasia (BPH. Materials and Methods: A total of 54 patients diagnosed with clinical BPH underwent transurethral prostate resection to address their primary urological problem. All patients were evaluated by use of a comprehensive medical history and rectal digital examination. The preoperative evaluation also included serum prostate-specific antigen (PSA measurement and ultrasonographic measurement of prostate volume. Prostate cancer was detected in one patient, who was then excluded from the study. We performed conventional cytogenetic analyses of short-term cultures of 53 peripheral blood samples obtained from the BPH patients. Results: The mean (±standard deviation age of the 53 patients was 67.8±9.4 years. The mean PSA value of the patients was 5.8±7.0 ng/mL. The mean prostate volume was 53.6±22.9 mL. Chromosomal abnormalities were noted in 5 of the 53 cases (9.4%. Loss of the Y chromosome was the most frequent chromosomal abnormality and was observed in three patients (5.7%. There was no statistically significant relationship among age, PSA, prostate volume, and chromosomal changes. Conclusions: Loss of the Y chromosome was the main chromosomal abnormality found in our study. However, this coexistence did not reach a significant level. Our study concluded that loss of the Y chromosome cannot be considered relevant for the diagnosis of BPH as it is for prostate cancer. Because BPH usually occurs in aging men, loss of the Y chromosome in BPH patients may instead be related to the aging process.

  13. Exophytic oral verrucous hyperplasia: a new entity.

    Science.gov (United States)

    Patil, Shankargouda; Warnakulasuriya, Saman; Raj, Thirumal; Sanketh, D S; Rao, Roopa S

    2016-11-01

    Exophytic oral verrucous hyperplasia (OVH) is a new entity described by an expert working group from South Asia. First reported in Taiwan, there are no reports so far from an Indian population. The aim was to use the microscopic features described by the expert group to differentiate OVH from other oral verruco-papillary lesions in an Indian archive. In a retrospective multicentre study, using pathology archives, 188 verruco-papillary lesions were retrieved from pathology archives. A proforma listing histopathological criteria for OVH based on published guidelines (Annals of Dentistry, University of Malaya, 2013) was used. Patients' demographic and clinical data were transcribed from patient charts. The Pearson chi-square test was used to determine associations between clinical and histopathological features. Of 188 oral verruco-papillary lesions that were evaluated, based on microscopic features the cases were reclassified as OVH (57), verrucous carcinoma (VC) (84), oral squamous cell carcinoma (16), and other verruco-papillary lesions (31). Both OVH (70%) and VC (60%) showed male predominance and commonly affected buccal mucosa (OVH 74% and VC 57%). Absence of downward growth of the hyperplastic epithelium into lamina propria when compared with the level of the basement membrane of the adjacent normal epithelium was a distinct feature in OVH. Keratin plugging, epithelial dysplasia and subepithelial lymphocytic infiltration were found to be significantly different (P verrucous carcinoma. We propose OVH is a distinct entity in our Indian population and should be considered in the classification of oral potentially malignant disorders. © 2015 Wiley Publishing Asia Pty Ltd.

  14. Role of transvaginal sonography (TVS) in the detection of endometrial hyperplasia.

    Science.gov (United States)

    Showkat, M S; Khondker, L; Nabi, S; Bhowmik, B

    2014-07-01

    Transvaginal sonography is superior to transabdominal sonography in most cases of pelvic pathology. A cross sectional study was done with forty patients to evaluate the clinical usefulness of transvaginal ultrasonography (TVS) in pre, peri and post menopausal women suspected to have endometrial hyperplasia.. The study was carried out January 2007 to November 2008 for a period of two years. The patients having endometrial hyperplasia diagnosed by TVS were correlated with histopathological diagnosis. Of total 40 cases, 18(45.0%) cases were endometrial hyperplasia and 22(55.0%) were negative for endometrial hyperplasia respectively in TVS findings. Only 2 cases were found as negative for endometrial hyperplasia in histopathology among the all suspected endometrial hyperplasia, which were diagnosed by TVS. On the other hand 17(42.5%) cases were endometrial hyperplasia and 23(57.5%) cases were negative for endometrial hyperplasia in histopathological findings. Among 22 negative for endometrial hyperplasia cases which were diagnosed by TVS, 1 case was endometrial hyperplasia and the rest 21 cases were negative for endometrial hyperplasia in histopathological findings. The validity of TVS in diagnosis of endometrial hyperplasia were studied by calculating sensitivity, specificity, accuracy, positive predictive value, which were 94%, 92%, 93%, 89% and 96% respectively. As the TVS findings of the present study correlated well with the histopathology findings and the validity test values were higher than observed by others, it can be concluded that TVS is sensitive and accurate modality in the evaluation of endometrial hyperplasia.

  15. Mathematical problems arising in interfacial electrohydrodynamics

    Science.gov (United States)

    Tseluiko, Dmitri

    In this work we consider the nonlinear stability of thin films in the presence of electric fields. We study a perfectly conducting thin film flow down an inclined plane in the presence of an electric field which is uniform in its undisturbed state, and normal to the plate at infinity. In addition, the effect of normal electric fields on films lying above, or hanging from, horizontal substrates is considered. Systematic asymptotic expansions are used to derive fully nonlinear long wave model equations for the scaled interface motion and corresponding flow fields. For the case of an inclined plane, higher order terms are need to be retained to regularize the problem in the sense that the long wave approximation remains valid for long times. For the case of a horizontal plane the fully nonlinear evolution equation which is derived at the leading order, is asymptotically correct and no regularization procedure is required. In both physical situations, the effect of the electric field is to introduce a non-local term which arises from the potential region above the liquid film, and enters through the electric Maxwell stresses at the interface. This term is always linearly destabilizing and produces growth rates proportional to the cubic power of the wavenumber - surface tension is included and provides a short wavelength cut-off, that is, all sufficiently short waves are linearly stable. For the case of film flow down an inclined plane, the fully nonlinear equation can produce singular solutions (for certain parameter values) after a finite time, even in the absence of an electric field. This difficulty is avoided at smaller amplitudes where the weakly nonlinear evolution is governed by an extension of the Kuramoto-Sivashinsky (KS) equation. Global existence and uniqueness results are proved, and refined estimates of the radius of the absorbing ball in L2 are obtained in terms of the parameters of the equations for a generalized class of modified KS equations. The

  16. Mutations of the KRAS oncogene in endometrial hyperplasia and carcinoma.

    Directory of Open Access Journals (Sweden)

    Wiesława Niklińska

    2009-05-01

    Full Text Available The aim of this study was to examine the prevalence and clinicopathological significance of KRAS point mutation in endometrial hyperplasia and carcinoma. We analysed KRAS in 11 cases of complex atypical hyperplasia and in 49 endometrial carcinomas using polymerase chain reaction associated with restriction fragment length polymorphism (PCR-RFPL. Point mutations at codon 12 of KRAS oncogene were identified in 7 of 49 (14,3% tumor specimens and in 2 of 11 (18,2% hyperplasias. No correlation was found between KRAS gene mutation and age at onset, histology, grade of differentiation and clinical stage. We conclude that KRAS mutation is a relatively common event in endometrial carcinogenesis, but with no prognostic value.

  17. Hyperplasia of elastic tissue in hepatic schistosomal fibrosis

    Directory of Open Access Journals (Sweden)

    Zilton A. Andrade

    1991-12-01

    Full Text Available Elastic tissue hyperplasia, revealed by means of histological, immunocytochemical and ultrastructural methods, appeared as a prominent change in surgical liver biopsies taken from 61 patients with schistosomal periportal and septal fibrosis. Such hyperplasia was absent in ecperimental murine schistosomiasis, including mice with "pipe-stem" fibrosis. Displaced connective tissue cells in periportal areas, such as smooth muscle cells, more frequently observed in human material, could be the site of excessive elastin synthesis, and could explain the differences observed in human and experimental materials. Elastic tissue, sometimes represented by its microfibrillar components, also appeared to be more condensed in areas of matrix (collagen degradation, suggesting a participation of this tissue in the remodelling of the extracellular matrix. By its rectratile properties elastic tissue hyperplasia in hepatic schistosomiasis can cause vascular narrowing and thus play a role in the pathogenesis of portal hypeertension.

  18. Genetics Home Reference: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

    Science.gov (United States)

    ... due to 11-beta-hydroxylase deficiency congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Enable Javascript ... PDF Open All Close All Description Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is ...

  19. Management of atypical lobular hyperplasia, atypical ductal hyperplasia, and lobular carcinoma in situ.

    Science.gov (United States)

    Clauser, Paola; Marino, Maria A; Baltzer, Pascal A T; Bazzocchi, Massimo; Zuiani, Chiara

    2016-01-01

    Atypical hyperplasia and lobular carcinoma in situ are rare proliferative breast lesions, growing inside ducts and terminal ducto-lobular units. They represent a marker of increased risk for breast cancer and a non-obligate precursor of malignancy. Evidence available on diagnosis and management is scarce. They are frequently found incidentally associated with other lesions, but can be visible through mammography, ultrasound or magnetic resonance. Due to the risk of underestimation, surgical excision is often performed. The analysis of imaging and histopathological characteristics could help identifying low-risk cases, for which surgery is not necessary. Chemopreventive agents can be used for risk reduction. Careful imaging follow up is mandatory; the role of breast MRI as screening modality is under discussion.

  20. Smoking habits and benign prostatic hyperplasia

    Science.gov (United States)

    Xu, Huan; Fu, Shi; Chen, Yanbo; Chen, Qi; Gu, Meng; Wang, Zhong

    2016-01-01

    Abstract Previous studies have warned against the promoting effects of cigarette smoking on benign prostatic hyperplasia (BPH). In contrast, some have argued that smoking confers a protective effect regarding BPH, while others have observed an aggravated effect. Thus, we performed this meta-analysis to determine whether cigarette use is associated with BPH risk. To identify articles from observational studies of relevance, a search was performed concurrent to March 21, 2016, on PubMed, Web of Science, Cochrane, EBSCO, and EMBASE databases. Random-effect model, according to the heterogeneity, was calculated to reveal the relative risks (RRs) and corresponding 95% confidence intervals (CIs). Eight articles were included in this meta-analysis, representing data for 44,100 subjects, of which 5221 (11.8%) had BPH as defined according to the criteria. Seven reports are concerned with analysis between nonsmokers and ex-smokers, in which no significant difference was observed (RR = 0.99, 95% CI 0.94–1.05). Another meta-analysis of 7 studies indicated an observable trend, but without significant difference between groups of nonsmokers and current smokers (RR = 1.17, 95% CI 0.98–1.41). Between groups of heavy (6 articles; RR = 1.02, 95% CI 0.84–1.24) and light smokers (5 articles; RR = 0.90, 95% CI 0.71–1.15), again no significant difference appears. Finally, we combined individuals as never-smokers and ever-smokers and still found no significant difference between the 2 groups of patients (RR = 1.03, 95% CI 0.92–1.15). Sensitivity analysis was displayed and confirmed the stability of the present results. Combined evidence from observational studies shows no significant association between cigarette smoking and BPH risk, either for ex-smokers or for current smokers. The trend of elevated BPH risk from smoking was observed only in current smokers compared with nonsmokers, while marginal significance was observed in comparing ever-smokers with

  1. [Intimal hyperplasia within a vascular anastomosis].

    Science.gov (United States)

    Kur'ianov, P S; Razuvaev, A S; Vavilov, V N

    2008-01-01

    Intimal hyperplasia (IH) appears to rank high amongst plausible causes of reconstructed arteries restenosis. It always occurs in the area of a surgical intervention on a vessel in response to a mechanical lesion. IH is the cause of thrombosis in 15 to 50% of cases following vascular reconstruction during the first year after the operation (with the exception of early thromboses, which are probably caused by an improperly performed interventional technique). Of a wide variety of clinical situations leading to development of IH in the vascular wall, for the purposes of the present review, we singled out the problem concerning the onset and development of this tissue reaction in intervascular anastomoses, which is currently one of the most important issues. Analysing the publications on the problem concerned showed that amongst significantfactors influencing the development of IH in the anastomosis, the investigators single out different parameters of the anastomoses, configuration (either an end-to-end or an end-to-side anastomosis, the use of special inserts and patches within the latter), as well as the use of autologous or synthetic conduits, blanket suture or interrupted suture, peculiarities of local haemodynamics (linear blood flow rate, distribution of parietal fraction forces, zones of stagnation and flow separation), etc. To a certain degree, the published data are rather controversial. There remain many problems, which are either unaddressed as yet, or insufficiently studied, if at all. For instance, while establishing an anastomosis between a bypass graft and an artery, surgeons often resort to endarterectomy. It is not known whether or not this technique would influence the IH pattern in the anastomosis concerned. Neither is it clear whether the high velocity flow exerts a direct damaging action upon the endothelium, whether it promotes the development of IH in the area of the lesion, and if affirmative, then what the mechanisms of this effect really are

  2. Prostate Artery Embolization for Benign Prostatic Hyperplasia: Current Status.

    Science.gov (United States)

    Mirakhur, Anirudh; McWilliams, Justin P

    2017-02-01

    Prostate artery embolization has garnered much attention as a promising treatment for lower urinary tract symptoms secondary to benign prostatic hyperplasia. We aim to provide an up-to-date review of this minimally invasive technique, including discussion of potential benefits and technical challenges. Current evidence suggests it is a safe and effective option for patients with medication-refractory urinary obstructive symptoms who are poor surgical candidates or refuse surgical therapy. Larger, randomized studies with long-term follow-up data are needed for this technique to be formally established in the treatment paradigm for benign prostatic hyperplasia.

  3. Thymic Hyperplasia Presenting as a Neck Mass in Graves Disease

    Directory of Open Access Journals (Sweden)

    Serkan Yener

    2009-06-01

    Full Text Available We describe a female patient who presented with Graves disease and a neck mass. Radiological characteristics of the mass suggested thymic hyperplasia. She was treated with methimazole, and because the mass did not regress after six months of therapy, the patient had total thyroidectomy and thymectomy. Pathological examination was consistent with chronic lymphocytic thyroiditis and thymic hyperplasia. Microscopic changes in the thymus can be detected in one third of patients with Graves disease, but massive enlargement is rare. It has been reported that regression occurs in most patients after a euthyroid state has been achieved; however, in some patients, thymectomy may be indicated. Turk Jem 2009; 13: 11-2

  4. Thymic Hyperplasia after Lung Transplantation Imitating Posttransplant Lymphoproliferative Disorder

    Directory of Open Access Journals (Sweden)

    Christina Maria Steger

    2011-01-01

    Full Text Available Thymic hyperplasia is usually associated with the treatment of malignant tumours and is sometimes linked with endocrine diseases. For the first time, we report a case of thymic hyperplasia in a patient 2 years after bilateral lung transplantation. Contrast-enhanced chest CT scan was highly suspicious for a posttransplant lymphoma or thymoma. Therefore, the patient received total thymectomy. Excised specimens were sent to the Department of Pathology. Unexpectedly, the histological examination revealed hyperplastic thymic tissue without evidence for a posttransplant lymphoproliferative disorder or malignancy.

  5. Oral focal epithelial hyperplasia: report of five cases.

    Science.gov (United States)

    Borborema-Santos, Cristina Maria; Castro, Maria Marta de; Santos, Paulo José Benevides dos; Talhari, Sinésio; Astolfi-Filho, Spartaco

    2006-01-01

    Focal epithelial hyperplasia or Heck's disease is a rare contagious disease caused by human papillomavirus types 13 or 32, initially described among Native American populations. This condition is characterized by the occurrence of multiple small papules or nodules in oral cavity, especially on labial and buccal mucosa and tongue. This report describes the diagnosis of focal epithelial hyperplasia in five Central Amazonian Indians who sought treatment at the Amazonas State Foundation of Tropical Medicine (FMT-AM), using clinical criteria, polymerase chain reaction (PCR) and DNA sequencing.

  6. Risk factors for atypical endometrial hyperplasia in infertile women:possible association with polycystic ovarv syndrome

    Institute of Scientific and Technical Information of China (English)

    Lu Qun; Shen Huan; Tian Li; Zhu Sainan; Chen Xi

    2008-01-01

    Objective:Endometrial hyperplasia is considered as a precursor of endometrial carcinoma,in which oncogenic potential is low in hyperplasia without atypia,but high in a-typical hyperplasia.The objective of this study was to identify the risk factors for atypical endo-metrial hyperplasia in infertile women.Methods:Fifty four infertile women with endometrial hy-perplasia,which were selected from a large cohort of 2 098 women who desired for the future childbearing in our center,were diagnosed by hysteroscopy with directed biopsies or dilation and curettage(D&C),including 44 with hyperplasia without atypia,10 with atypical hyperplasia.Clinical characteristics were recorded in terms of age,body mass index(BMI),parity,insulin resistance,polycystic ovary syndrome(PCOS).Statistical comparison was made between women with hyperplasia without atypia and atypical hyperplasia.Logistic regression analysis Was em-ployed to assess the contribution of PCOS,obesity and insulin resistance to atypical hyperplasia.Results:The incidence of endometrial hyperplasia in infertile women Was 2.57%(54/2098),which included 1 0 women(0.48%)were diagnosed as atypical hyperplasia.PCOS in women with atypical hyperplasia(70%,7/10)was significantly higher than those of hyperplasia with-out atypia(27.27%,12/44).Stepwise regression analysis showed that PCOS contributed maximally to atypical endometrial hyperplasia in infertile women.Conclusion:PCOS is an independent risk factor for atypical endometrial hyperplasia in women with infertility.The infertile women with PCOS are at an increased risk for atypical endometrial hyperplasia and endometrial cancer.

  7. Wilms tumor arising in extracoelomic paravertebral soft tissues.

    LENUS (Irish Health Repository)

    Mulligan, Linda

    2012-02-01

    Extrarenal Wilms tumor (ERWT) is a well-established entity which most commonly arises within the genitourinary tract, including intracoelomic paranephric soft tissue. Rarely, ERWT arises within teratoma, and it tends to occur predominantly in distinct settings, such as females with spinal defects and males with testicular teratomas. We report a unique ERWT arising within an extracoelomic teratoma of the paraspinal musculature, thereby expanding the range of reported locations for this unusual tumor.

  8. Preoperative diagnosis of ductal carcinoma in situ arising within a mammary fibroadenoma: a case report.

    Science.gov (United States)

    Ooe, Asako; Takahara, Sachiko; Sumiyoshi, Kazuhiro; Yamamoto, Hitoshi; Shiba, Eiichi; Kawai, Jun

    2011-07-01

    Fibroadenoma is the most common form of benign breast tumor and the most common breast tumor in women under 30 years of age. However, carcinoma arising within a fibroadenoma is unusual, with over 100 cases reported in the literature. Histological diagnosis is typically unexpected. A 46-year-old female with no family history of breast malignancies was admitted for an elastic hard lump in the upper-outer quadrant of her right breast. At a clinic that she visited previously, her condition was diagnosed by core needle biopsy with four specimens showing fibroadenoma with borderline atypical ductal hyperplasia at pathology. Excisional biopsy was recommended for pathological diagnosis. The patient requested a definitive diagnosis and alternative treatment to tumorectomy. More biopsy specimens were needed for pathological diagnosis; therefore, ultrasonography-guided vacuum-assisted core needle biopsies were obtained, confirming ductal carcinoma in situ with questionable microinvasion of intracanalicular- and pericanalicular-type fibroadenoma. Right breast-conserving surgery and sentinel lymph node biopsy were immediately performed for radical therapy. We present this case to increase awareness of this entity and stress the need for histological evaluation of some breast masses.

  9. Multidisciplinary treatment of peripheral osteoma arising from mandibular condyle in patient presenting with facial asymmetry.

    Science.gov (United States)

    Nojima, Kunihiko; Niizuma-Kosaka, Fumiko; Nishii, Yasushi; Sueishi, Kenji; Yamakura, Daiki; Ikumoto, Hideyuki; Ohata, Hitoshi; Inoue, Takashi

    2014-01-01

    While osteomas often occur in the orofacial area, it is relatively rare for one to occur in the temporomandibular joint area. Here, we report a patient who underwent multidisciplinary treatment including high condylectomy for peripheral osteoma arising in the left mandibular condyle. The patient was a 46-year-old woman with the chief complaint of facial asymmetry. Cephalometric analysis revealed skeletal anterior crossbite due to anterior deviation of the mandible, with chin deviation of 10 mm to the right. A computed tomography scan revealed bone hyperplasia in the mesiodistal and inner areas of the left mandibular condyle, which exhibited outward anterior displacement. Bone scintigraphy showed a circular area of strong radioisotope accumulation with indistinct boundaries, consistent with the lesion in the left mandibular condyle. The above findings led to a diagnosis of skeletal mandibular prognathism with facial asymmetry due to peripheral osteoma originating in the left mandibular condyle. After orthodontic treatment and surgical resection of the tumor and mandibular condyle, preservation and prosthetic treatment were undertaken. A well-balanced facial appearance and good occlusion were achieved.

  10. Congenital adrenal hyperplasia with localized aggressive periodontitis and amelogenesis imperfecta.

    Science.gov (United States)

    Ajlan, Sumaiah Abdulbaqi

    2015-11-01

    Congenital adrenal hyperplasia (CAH) is an inherited medical condition that implies defects in steroid biosynthesis. The dental findings of a female patient with CAH are reported. The patient suffered from severe periodontal tissue destruction, obvious enamel defects, as well as some occlusal problems. The management approach is presented and the possibility of interrelation of her dental findings with her medical condition is discussed.

  11. Effect of Boerhaavia diffusa in experimental prostatic hyperplasia in rats

    Directory of Open Access Journals (Sweden)

    Bhavin A Vyas

    2013-01-01

    Conclusion: The results suggested that treatment with B. diffusa may improve symptoms of disease and inhibit the increased prostate size. In vitro study implies that herbal extracts has the machinery to produce beneficial effect on prostatic smooth muscle, which would relieve the urinary symptoms of disease. B. diffusa could be a potential source of new treatment of prostatic hyperplasia.

  12. Testicular adrenal rest tumours in congenital adrenal hyperplasia

    NARCIS (Netherlands)

    Claahsen-van der Grinten, H.L.; Hermus, A.R.M.M.; Otten, B.J.

    2009-01-01

    In adult patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumours (TART) is an important complication leading to gonadal dysfunction and infertility. These tumours can be already found in childhood and puberty. In this paper, we review the embryological, hi

  13. Condylar hyperplasia: correlation of histological and scintigraphic features.

    Science.gov (United States)

    Gray, R J; Horner, K; Testa, H J; Lloyd, J J; Sloan, P

    1994-05-01

    Scintigaphy using 99mTc-MDP is widely advocated as a method of diagnosis and presurgical assessment of patients with condylar hyperplasia. A previous study has demonstrated that hyperplasia of the mandibular condyle is characterized histologically by the presence of an uninterrupted layer of undiffentiated germinative mesenchyme cells, a layer of hypertrophic cartilage and the presence of islands of chondrocytes in the subchondral trabecular bone. This study was undertaken to determine whether there was any association between the degree of 99mTc-MDP uptake and the histological features of condylar hyperplasia. The parameters examined were trabecular bone volume, depth of cartilage islands and the presence of forming and resorbing surfaces. The images were analyzed by three experienced observers, who ranked the images according to degree of asymmetry between sides and the degree of uptake on the affected side. There was a significant correlation between the proportions of resorbing and osteoid covered bone surfaces and scintigraphic appearances. The rank correlations were rs = 0.55 (P = 0.3) between the resorptive surfaces and degree of symmetry and rs = 0.53 (P = 0.04) between the osteoid surfaces and absolute uptake. The correlation was higher for both methods (rs = 0.64 in each case) when the osteoid surface and resorptive surface measurements were combined. The results indicate that visual examination of radioisotope bone scans by experienced observers is a valid form of assessment of bone activity in condylar hyperplasia.

  14. Hyperplasia and Hypertrophy of Pacinian Corpuscles: A Case Report.

    Science.gov (United States)

    García, Fernando Cano; Acosta, Dalia Rodríguez; Diaz González, José Manuel; Lima, Marcela Saeb

    2015-08-01

    The proliferation of Pacinian corpuscles is a rare benign lesion that occurs frequently in the fingers of hands, with the only clinical sign of pain when a drastic temperature change happens. A case of an extremely rare lesion in which we observed hypertrophy and hyperplasia of Pacinian corpuscles has been reported.

  15. [Congenital adrenal hyperplasia: clinical aspects and neonatal screening

    NARCIS (Netherlands)

    Stikkelbroeck, M.M.L.; Otten, B.J.

    2002-01-01

    Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In 95% of CAH cases, it is caused by 21-hydroxylase deficiency, leading to cortisol deficiency and (in most cases) aldosterone deficiency. The compensatory increase in ACTH secretion by the pituitary gland leads to stim

  16. Impaired cognitive function in women with congenital adrenal hyperplasia

    DEFF Research Database (Denmark)

    Johannsen, Trine H.; Ripa, Caroline P.L.; Reinisch, June M.

    2006-01-01

    CONTEXT: Congenital adrenal hyperplasia (CAH) is a disorder with a wide spectrum of severity. OBJECTIVE: The objective of this study was to investigate cognitive function in CAH women. DESIGN: This was a case-control study. SETTING: This study was conducted at a tertiary center for pediatric...

  17. Testicular Adrenal Rest Tumours in Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Otten BJ

    2009-01-01

    Full Text Available In adult patients with congenital adrenal hyperplasia (CAH, the presence of testicular adrenal rest tumours (TART is an important complication leading to gonadal dysfunction and infertility. These tumours can be already found in childhood and puberty. In this paper, we review the embryological, histological, biochemical, and clinical features of TART and discuss treatment options.

  18. Testicular adrenal rest tumours in congenital adrenal hyperplasia

    NARCIS (Netherlands)

    Claahsen-van der Grinten, H.L.; Hermus, A.R.M.M.; Otten, B.J.

    2009-01-01

    In adult patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumours (TART) is an important complication leading to gonadal dysfunction and infertility. These tumours can be already found in childhood and puberty. In this paper, we review the embryological,

  19. Radiological findings of congenital lipoid adrenal hyperplasia: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Mi Jeong; Shin, Joo Yong; Lee, Hee Jung; Lee, Jin Hee; Sohn, Cheol Ho; Lee, Sung Moon; Kim, Hong; Woo, Seong Ku; Suh, Soo Ji [Keimyung Univ. School of Medicine, Taegu (Korea, Republic of)

    2001-05-01

    Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder characterized by the marked accumulation of lipids and cholesterol in the adrenal cortex, and the failure of adrenal steroids to synthesise. We report the ultrasound (US), computed tomographic (CT), and magnetic resonance (MR) imaging findings in a four-day-old female neonate with CLAH.

  20. Mistaken gender identity in non-classical congenital adrenal hyperplasia

    OpenAIRE

    Kukreti, Prerna; Kandpal, Manish; Jiloha, R C

    2014-01-01

    Gender identity is the sense of belonging that one feels for a particular sex psychologically and socially, independent of one's biological sex. There is much less systematic data on gender identity in females with congenital adrenal hyperplasia (CAH). We report a case of non-classical CAH presenting as a case of gender identity disorder.

  1. Mistaken gender identity in non-classical congenital adrenal hyperplasia.

    Science.gov (United States)

    Kukreti, Prerna; Kandpal, Manish; Jiloha, R C

    2014-04-01

    Gender identity is the sense of belonging that one feels for a particular sex psychologically and socially, independent of one's biological sex. There is much less systematic data on gender identity in females with congenital adrenal hyperplasia (CAH). We report a case of non-classical CAH presenting as a case of gender identity disorder.

  2. Focal epithelial hyperplasia (Heck disease) associated with AIDS.

    Science.gov (United States)

    Viraben, R; Aquilina, C; Brousset, P; Bazex, J

    1996-01-01

    Focal epithelial hyperplasia (FEH) of the oral mucosa occurring in a HIV-infected man is described. Molecular biology disclosed an HPV-32 type in oral lesions. The association of FEH and AIDS is uncommon although many HPV subtypes may manifest during HIV infection.

  3. [Focal epithelial hyperplasia (Heck's disease) in a Turkish family].

    Science.gov (United States)

    Weidner, F

    1996-12-01

    A 31-year-old Turkish patient and some family members suffered from multiple hyperplastic oral mucosal papules. Intralesional papilloma virus was not found but the patient had elevated levels of CD8 lymphocytes in his peripheral blood. We diagnosed focal epithelial hyperplasia of Heck.

  4. High condylectomy for the treatment of mandibular condylar hyperplasia

    DEFF Research Database (Denmark)

    Ghawsi, Sodaba; Aagaard, Esben; Thygesen, Torben Henrik

    2016-01-01

    Mandibular condylar hyperplasia (MCH) is a rare, idiopathic disorder, which can cause both functional and aesthetic problems. MCH has often been described in the literature, but a comprehensive analysis of the current literature on MCH has not been undertaken. This study presents a systematic rev...

  5. Giant Benign Prostatic Hyperplasia in a Pakistani Patient

    Directory of Open Access Journals (Sweden)

    Zafaruddin Khan

    2014-01-01

    Full Text Available “Giant hyperplasia” of the prostate is a rare pathology of the prostate gland. We report one such case, in which a successful retropubic prostatectomy was performed on an elderly male patient in Pakistan. The weight of the resected prostate was 700 g, which is the eighth largest prostate with benign prostatic hyperplasia reported.

  6. Severe venous neointimal hyperplasia prior to dialysis access surgery

    Science.gov (United States)

    Lee, Timmy; Chauhan, Vibha; Krishnamoorthy, Mahesh; Wang, Yang; Arend, Lois; Mistry, Meenakshi J.; El-Khatib, Mahmoud; Banerjee, Rupak; Munda, Rino; Roy-Chaudhury, Prabir

    2011-01-01

    Background. Venous neointimal hyperplasia is the most common cause of arteriovenous (AV) fistula and graft dysfunction following dialysis access surgery. However, the pathogenetic impact of pre-existing venous neointimal hyperplasia at the time of AV access creation on final clinical success is currently unknown in the setting of advanced chronic kidney disease (CKD) and end-stage renal disease (ESRD) patients. The aim of this study was to perform a detailed histological, morphometric, and immunohistochemical analysis of vein specimens in advanced CKD and ESRD patients collected at the time of new vascular access placement. Methods. Vein samples from 12 patients were collected at the time of AV access creation near the site of AV anastomosis. Histological, immunohistochemistry and morphometric studies were performed on these vein samples. Results. Examination of the tissue specimens obtained at the time of surgery showed neointimal hyperplasia in 10 of 12 specimens, ranging from minimal to very severe. The majority of cells within the neointima were myofibroblasts with a minority of contractile smooth muscle cells present. Conclusion. Our work represents a detailed description of the morphometric and cellular phenotypic lesions present in the veins of CKD and ESRD patients, prior to dialysis access placement. These studies (i) suggest the future possibility of a new predictive marker (pre-existing venous neointimal hyperplasia) for AV dialysis access dysfunction and (ii) open the door for the future development of novel local therapies for optimization of the venous substrate on which the dialysis access is created. PMID:21220751

  7. Early Hormonal Influences on Cognitive Functioning in Congenital Adrenal Hyperplasia.

    Science.gov (United States)

    Resnick, Susan M.; And Others

    1986-01-01

    Reports the results of cognitive test performance and early childhood activities in individuals with congenital adrenal hyperplasia, an autosomal recessive disorder associated with elevated prenatal adrenal androgen levels, demonstrating the effects of early exposure to excess androgenizing hormones on sexually dimorphic cognitive functioning.…

  8. Giant prostatic hyperplasia: Case report and literature review

    Directory of Open Access Journals (Sweden)

    Oktay Üçer

    2011-12-01

    Full Text Available The giant hyperplasia of the prostate is an extremely rare pathology of prostate gland. We report the uncomplicated removal of the largest ever prostate from Turkey and the 3rd case exceeding 500 grams in the world literature.

  9. Epidemiology and management of symptomatic benign prostatic hyperplasia

    NARCIS (Netherlands)

    K.M.C. Verhamme (Katia)

    2004-01-01

    textabstractBenign prostatic hyperplasia (BPH) is the most common non-cancerous form of cell growth in men and usually begins with the formation of microscopic nodules in younger men. As BPH progresses, overgrowth occurs in the central area of the prostate, called the transition zone, which wraps ar

  10. [Bilateral hyperplasia of the coronoid apophyses. A clinical case].

    Science.gov (United States)

    Parascandolo, S; Rusciano, A; Tamai, M; Morlino, M

    1993-03-01

    The authors report on the case of a young patient affected with bilateral hyperplasia of the coronoid apophyses, who presented a serious reduction of the mandibular excursion. Normal mouth opening was re-established by a bilateral osteotomy with endoral removal of the coronoid apophyses.

  11. Molecular analysis of mutations for the adenomatous polyposis coli (APC) gene in Romanian patients with colorectal cancer.

    Science.gov (United States)

    Toma, M; Cimponeriu, D; Pompilia, A; Stavarachi, M; Beluşică, L; Radu, I; Gavrilă, L

    2008-01-01

    Mutations in adenomatous polyposis coli (APC) gene have not been previously characterized among Romanian patients with colorectal cancer (CRC). We initiate this study to detect the mutations in APC gene in blood and tumor samples collected from 16 patients (10 men and 6 women) and blood samples from 21 first and second degree relatives of the patients. For this the presence of mutations in exons 6, 7, 12, 13, 14 as well as in regions B, L and W of exon 15 was investigated using PCR multiplex. In the same time, we have searched for 5 bp deletions at codon 1061 of APC gene by PAGE and SSCP methods. These methods allowed us to evidence identification of the presence of mutations in samples from 7 individuals. In one patient, was detected a deletion of exon 13th of APC gene both in DNA extracted from blood and tumor samples. Multiple deletions (e.g. in exon 6, 12, and in 15L and 15W regions) in DNA extracted from the tumor sample were detected, but not in DNA probe obtained from blood cells. We can speculate that these mutations are an example of genomic instability accompanying the malignancy. Till now, no mutation affecting 1061 codon of APC gene was identified in the patients investigated in our study.

  12. A CA-repeat polymorphism close to the adenomatous polyposis coli (APC) gene offers improved diagnostic testing for familial APC

    Energy Technology Data Exchange (ETDEWEB)

    Spirio, L.; Nelson, L.; Ward, K.; Burt, R.; White, R.; Leppert, M. (Univ. of Utah, Salt Lake City (United States))

    1993-02-01

    Presymptomatic genetic testing for the presence of a mutant allele causing familial adenomatous polyposis coli (APC) has been difficult to perform effectively in the past because DNA markers surrounding the APC gene on chromosome 5q have not been very informative. The authors report results of genetic linkage studies on both research families and clinical families by using D5S346, a highly polymorphic dinucleotide (CA)-repeat locus 30-70 kb from the APC gene. Linkage analysis with this marker in a large APC pedigree showed an increase of at least 9.0 LOD units, in likelihood of linkage of the disease-causing allele to the APC locus, when compared with the highest LOD score attained with any other closely linked marker. When the first 14 APC families that requested genotypic analysis by the DNA Diagnostic Laboratory at the University of Utah were tested with D5S346, 20 of the 31 at-risk individuals were identified as either carriers or noncarriers of an APC-predisposing allele. The authors see this marker as an important tool for research studies and for the presymptomatic diagnosis of APC. 28 refs., 3 figs., 2 tabs.

  13. Gene-Nutrient Interaction between Folate and Dihydrofolate Reductase in Risk for Adenomatous Polyp Occurrence: A Preliminary Report.

    Science.gov (United States)

    Choi, Jeong-hwa; Yates, Zoe; Martin, Charlotte; Boyd, Lyndell; Ng, Xiaowei; Skinner, Virginia; Wai, Ron; Veysey, Martin; Lucock, Mark

    2015-01-01

    Folate and related gene variants are significant risk factors in the aetiology of colorectal cancer. Dihydrofolate reductase (DHFR) is critical in the metabolism of synthetic folic acid (pteroylmonoglutamatamic, PteGlu) to tetrahydrofolate following absorption. Therefore, the 19bp deletion variant of DHFR may lead to the alteration of folate-related colorectal disease susceptibility. This study examined the association between PteGlu and 19bp del-DHFR, and adenomatous polyp (AP) occurrence, an antecedent of colorectal cancer. A total of 199 subjects (162 controls and 37 AP cases) were analysed to determine dietary intake of total folate, natural methylfolate and synthetic PteGlu, level of erythrocyte folate and plasma homocysteine (tHcy), and genotype of 19bp del-DHFR. Dietary folate intake, erythrocyte folate, tHcy and 19bp del-DHFR variants did not independently predict the occurrence of AP. However, a gene-nutrient interaction was observed when subjects were stratified according to dietary folate intake. In subjects with a folate intake above the median value due to significant dietary PteGlu content, the presence of the 19bp-deletion allele decreased the risk for AP (OR=0.35, 95% CI: 0.13-0.97). However, such association was not evident in individuals with a folate intake below the median value. In conclusion, the finding suggests that folate nutrition and 19bp del-DHFR variation may interact to modify AP risk.

  14. Thyroid adenomatous nodule with bizarre nuclei: a case report and mutation analysis of the p53 gene.

    Science.gov (United States)

    Sato, Katsuaki; Shimode, Yuzo; Hirokawa, Mitsuyoshi; Ueda, Yoshimichi; Katsuda, Shogo

    2008-01-01

    We present a rare case of adenomatous nodule with bizarre nuclei. The patient was incidentally found to have a nodule in the left lobe of the thyroid gland by ultrasonographic examination. Papillary thyroid carcinoma was suspected by fine needle aspiration cytology, and hemithyroidectomy was performed. The demarcated 1.5-cm nodule had a multinodular appearance with various features, including micro- and macrofollicular components, cystic degeneration, a hyalinized area, and a papillary structure. Hyperchromatic bizarre nuclei with cytoplasmic inclusions were restrictively observed in the microfollicular area. The bizarre nuclei demonstrated diffuse p53 protein immmunoreactivity, but no mutation in exons 5-9 of the p53 gene was detected. The bizarre nuclei were reactive for anti-5-methyl-2'-deoxycytidine antibody, indicating the enclosure of presumably inactive methylated DNA. The intranuclear cytoplasmic inclusions (ICIs) were proven to contain vimentin and beta-catenin by immunohistochemistry. In this case, a degenerative process is involved in the formation of bizarre nuclei because of the compression by surrounding micronodules, unidentifiable mitotic figures, and a quite low proliferative activity. This case suggests that bizarre nuclei and ICIs, which might be identical to those of papillary carcinomas, can be seen in benign thyroid lesions, and overdiagnosis should be avoided regardless of immunohistochemical overexpression of p53.

  15. Effects of cumene hydroperoxide on adenosine diphosphate ribosyl transferase in mononuclear leukocytes of patients with adenomatous polyps in the colon.

    Science.gov (United States)

    Markowitz, M M; Johnson, D B; Pero, R W; Winawer, S J; Miller, D G

    1988-03-01

    We have studied the effects of plasma and of cumene hydroperoxide (CUM) on adenosine diphosphate ribosyl transferase (ADPRT) from mononuclear leukocytes (HML) of patients with colonic adenomatous polyps (n = 22), with colonic hyperplastic polyps (n = 5) and with neither type of polyp (controls) (n = 6). ADPRT was measured after incubation of HML with plasma alone (termed the plasma value), and with plasma plus CUM (50 microM) (the activated value); the difference elicited by CUM was termed the induced value. There was no significant difference in values between the control and hyperplastic polyp groups: these were combined for further analysis. The plasma (P = 0.038), activated (P = 0.009) and induced (P = 0.0024) values of the combined group all differed significantly from those of the adenoma group. At low exposures, CUM stimulated both ADPRT and unscheduled DNA synthesis and, at higher exposures, inactivated both. Pretreatment of HML with vitamin E protected against these effects of CUM, while pretreatment with diamide (which depletes GSH) accentuated the effects. This study demonstrates a differential reaction of ADPRT in patients harboring colonic adenomas and suggests that the origin of this difference may lie in cellular responses to oxidative stress.

  16. The ret/ptc1 oncogene is activated in familial adenomatous polyposis-associated thyroid papillary carcinomas.

    Science.gov (United States)

    Cetta, F; Chiappetta, G; Melillo, R M; Petracci, M; Montalto, G; Santoro, M; Fusco, A

    1998-03-01

    Familial adenomatous polyposis (FAP) is caused by germ-line mutations of the apc gene, and it is associated with an increased risk of developing papillary thyroid carcinomas. We have previously reported that a significant fraction of sporadic human papillary thyroid carcinomas is characterized by gene rearrangements affecting the ret protooncogene. These rearrangements generate chimeric transforming oncogenes designated ret/ptc. By a combined immunohistochemical and RT-PCR approach, we analyzed, for ret/ptc oncogene activation, papillary thyroid carcinomas occurred in two FAP kindreds, both showing typical apc gene mutations. Kindred 1 had seven members affected by FAP, and among these, three patients showed papillary thyroid carcinomas. Kindred 2 had two patients, mother and daughter, affected by colonic polyposis; the 20-yr-old daughter showed also a papillary carcinoma. Here we report that ret/ptc1 oncogene was activated in two of the three papillary carcinomas of FAP kindred 1 and in the papillary carcinoma of FAP kindred 2. These findings document that loss of function of apc coexists with gain of function of ret in some papillary thyroid carcinomas, suggesting that ret/ptc1 oncogene activation could be a progression step in the development of FAP-associated thyroid tumors.

  17. Dacarbazine-Doxorubicin therapy ameliorated an extremely aggressive mesenteric desmoid tumor associated with familial adenomatous polyposis: report of a case.

    Science.gov (United States)

    Ezumi, Koji; Yamamoto, Hirofumi; Takemasa, Ichiro; Nomura, Masaya; Ikeda, Masataka; Sekimoto, Mitsugu; Monden, Morito

    2008-03-01

    A 30-year-old man with familial adenomatous polyposis (FAP) underwent prophylactic proctocolectomy by laparoscopy-assisted surgery. After 10 months, we found an intra-abdominal tumor, which grew rapidly to 25 cm in diameter. We performed an emergency operation, which revealed that it was a desmoid tumor derived mainly from colorectal mesenterium. The tumor was removed with three short segments of intestine and the left ureter. A computed tomography (CT) scan done 3 months later showed a 10 cm mesenteric desmoid tumor at the beginning of jejunum, approaching the root of the superior mesenteric artery (SMA). Fortunately, we were able to remove the tumor without injuring the SMA. To our distress, however, another recurrent mesenteric desmoid tumor was discovered in the pelvis one month later, which grew rapidly from 5 cm to 16 cm within 4 months. During this period, we gave the patient several regimens, including antiestrogen (tamoxifen), a nonsteroidal anti-inflammtory drug and imatinib mesylate (Gleevec), which had little or no effect. Finally, when the desmoid occupied the pelvic space, we gave the patient dacarbazine (DTIC) and doxorubicin (DOX). After seven courses, the mesenteric tumor showed an almost complete response (CR). The chemotherapy caused grade 3 to 4 leukocytopenia, but without any hazardous events. No evidence of further recurrence of mesenteric desmoid has been seen for 4 years. This combination chemotherapy is a promising strategy, even against an extremely aggressive, life-threatening mesenteric desmoid associated with FAP.

  18. Role of Hyperplasia of Gingival Lymphatics in Periodontal Inflammation.

    Science.gov (United States)

    Papadakou, P; Bletsa, A; Yassin, M A; Karlsen, T V; Wiig, H; Berggreen, E

    2017-04-01

    Lymphatic vessels are important for maintenance of tissue fluid homeostasis and afferent antigen transport. In chronic inflammation, lymphangiogenesis takes place and is characterized by lymphatic endothelial cell proliferation and lymphatic hyperplasia. Vascular endothelial growth factor C (VEGFC) is the main known lymphangiogenic growth factor, and its expression is increased in periodontitis, a common chronic infectious disease that results in tissue destruction and alveolar bone loss. The role of lymphangiogenesis during development of periodontitis is unknown. Here, we test if transgenic overexpression of epithelial VEGFC in a murine model is followed by hyperplasia of lymphatic vessels in oral mucosa and if the lymphatic drainage capacity is altered. We also test if lymphatic hyperplasia protects against periodontal disease development. Transgenic keratin 14 (K14)-VEGFC mice had significant hyperplasia of lymphatics in oral mucosa, including gingiva, without changes in blood vessel vasculature. The basal lymph flow was normal but slightly lower than in wild-type mice when oral mucosa was challenged with lipopolysaccharide from Porphyromonas gingivalis. Under normal conditions, K14-VEGFC mice exhibited an increased number of neutrophils in gingiva, demonstrated enhanced phagocyte recruitment in the cervical lymph nodes, and had more alveolar bone when compared with their wild-type littermates. After induction of periodontitis, no strain differences were observed in the periodontal tissues with respect to granulocyte recruitment, bone resorption, angiogenesis, cytokines, and bone-related protein expressions or in draining lymph node immune cell proportions and vascularization. We conclude that overexpression of VEGFC results in hyperplastic lymphatics, which do not enhance lymphatic drainage capacity but facilitate phagocyte transport to draining lymph nodes. Hyperplasia of lymphatics does not protect against development of ligature-induced periodontitis.

  19. SIRT1 Limits Adipocyte Hyperplasia through c-Myc Inhibition.

    Science.gov (United States)

    Abdesselem, Houari; Madani, Aisha; Hani, Ahmad; Al-Noubi, Muna; Goswami, Neha; Ben Hamidane, Hisham; Billing, Anja M; Pasquier, Jennifer; Bonkowski, Michael S; Halabi, Najeeb; Dalloul, Rajaa; Sheriff, Mohamed Z; Mesaeli, Nasrin; ElRayess, Mohamed; Sinclair, David A; Graumann, Johannes; Mazloum, Nayef A

    2016-01-29

    The expansion of fat mass in the obese state is due to increased adipocyte hypertrophy and hyperplasia. The molecular mechanism that drives adipocyte hyperplasia remains unknown. The NAD(+)-dependent protein deacetylase sirtuin 1 (SIRT1), a key regulator of mammalian metabolism, maintains proper metabolic functions in many tissues, counteracting obesity. Here we report that differentiated adipocytes are hyperplastic when SIRT1 is knocked down stably in mouse 3T3-L1 preadipocytes. This phenotype is associated with dysregulated adipocyte metabolism and enhanced inflammation. We also demonstrate that SIRT1 is a key regulator of proliferation in preadipocytes. Quantitative proteomics reveal that the c-Myc pathway is altered to drive enhanced proliferation in SIRT1-silenced 3T3-L1 cells. Moreover, c-Myc is hyperacetylated, levels of p27 are reduced, and cyclin-dependent kinase 2 (CDK2) is activated upon SIRT1 reduction. Remarkably, differentiating SIRT1-silenced preadipocytes exhibit enhanced mitotic clonal expansion accompanied by reduced levels of p27 as well as elevated levels of CCAAT/enhancer-binding protein β (C/EBPβ) and c-Myc, which is also hyperacetylated. c-Myc activation and enhanced proliferation phenotype are also found to be SIRT1-dependent in proliferating mouse embryonic fibroblasts and differentiating human SW872 preadipocytes. Reducing both SIRT1 and c-Myc expression in 3T3-L1 cells simultaneously does not induce the adipocyte hyperplasia phenotype, confirming that SIRT1 controls adipocyte hyperplasia through c-Myc regulation. A better understanding of the molecular mechanisms of adipocyte hyperplasia will open new avenues toward understanding obesity.

  20. Sclerosing lobular hyperplasia of breast: cytomorphologic and histomorphologic features: a case report

    Directory of Open Access Journals (Sweden)

    Kapur Payal

    2006-04-01

    Full Text Available Abstract Background Mammary sclerosing lobular hyperplasia is an uncommon benign lesion of adolescent and young women. Fine-needle aspiration cytology of mammary sclerosing lobular hyperplasia is said to show characteristic features that include an absence of stromal fragments. Case presentation In this article, we describe a case of sclerosing lobular hyperplasia that occurred in the right breast of a 12-year-old girl. Fine-needle aspiration cytology showed some fibroadenoma-like features including the presence of stromal fragments, while branched tubular fragments were not seen. The diagnosis of sclerosing lobular hyperplasia was made on histologic examination that showed preserved acinar architecture with lobular hyperplasia and sclerosis of intralobular and interlobular stroma. Conclusion Fine-needle aspiration cytology features of mammary sclerosing lobular hyperplasia are not diagnostic and overlap with those of fibroadenoma; however, a distinction between the two benign entities is of no clinical significance. The definitive diagnosis of sclerosing lobular hyperplasia requires histopathologic evaluation.

  1. Image-guided robot-assisted prostate ablation using water jet-hydrodissection: initial study of a novel technology for benign prostatic hyperplasia.

    Science.gov (United States)

    Faber, Kenneth; de Abreu, Andre Luis Castro; Ramos, Patrick; Aljuri, Nikolai; Mantri, Surag; Gill, Inderbir; Ukimura, Osamu; Desai, Mihir

    2015-01-01

    To evaluate the safety and efficacy of a novel robotic tissue ablation system (PROCEPT Aquablation(™) System), in performing prostate ablation in a survival canine model. This novel technology uses a high-velocity saline stream that aims to selectively ablate prostatic glandular tissue while sparing collagenous structures such as blood vessels and capsule. Once the ablation is complete, a laser beam is captured by a low-pressure water jet to produce surface hemostasis. The extent and depth of ablation is predetermined by endoscopic and transrectal ultrasonography guidance. The procedure was performed in eight noncastrated male beagles aged 6 years or older (Acute 2, Chronic 6) through a previously created perineal urethrostomy. Aquablation time ranged from 40 to 84 seconds (mean 60.5 sec). There was no active bleeding in any of the dogs during or after Aquablation. Water jet-guided laser coagulation was used for purposes of monitoring its safety and efficacy. Five of the six dogs reached the predetermined 6-week mark. Complications included two dogs with infection successfully treated with antibiotics, a false passage created during catheter placement, and two bladder neck perforations (from mechanical insertion), one leading to euthanasia. Histologic evaluation at 6 weeks revealed a normal cellular architecture and full reepithelialization of the treatment cavity. We report the initial survival data in the animal model of a novel robotic device developed for managing symptomatic benign prostatic hyperplasia (BPH). Aquablation produces ablation of adenomatous elements while preserving collagenous structures and is a promising technology for surgical management of symptomatic BPH.

  2. Anal Canal Adenocarcinoma in a Patient with Longstanding Crohn's Disease Arising From Rectal Mucosa that Migrated From a Previously Treated Rectovaginal Fistula.

    Science.gov (United States)

    Maejima, Taku; Kono, Toru; Orii, Fumika; Maemoto, Atsuo; Furukawa, Shigeru; Liming, Wang; Kasai, Shoji; Fukahori, Susumu; Mukai, Nobutaka; Yoshikawa, Daitaro; Karasaki, Hidenori; Saito, Hiroya; Nagashima, Kazuo

    2016-07-04

    BACKGROUND This study reports the pathogenesis of anal canal adenocarcinoma in a patient with longstanding Crohn's disease (CD). CASE REPORT A 50-year-old woman with a 33-year history of CD presented with perianal pain of several months' duration. She had been treated surgically for a rectovaginal fistula 26 years earlier and had been treated with infliximab (IFX) for the previous 4 years. A biopsy under anesthesia revealed an anal canal adenocarcinoma, which was removed by abdominoperineal resection. Pathological examination showed that a large part of the tumor consisted of mucinous adenocarcinoma at the same location as the rectovaginal fistula had been removed 26 years earlier. There was no evidence of recurrent rectovaginal fistula, but thick fibers surrounded the tumor, likely representing part of the previous rectovaginal fistula. Immunohistochemical analysis using antibodies against cytokeratins (CK20 and CK7) revealed that the adenocarcinoma arose from the rectal mucosa, not the anal glands. CONCLUSIONS Mucinous adenocarcinoma can arise in patients with CD, even in the absence of longstanding perianal disease, and may be associated with adenomatous transformation of the epithelial lining in a former fistula tract.

  3. Proctocolectomy and ileal J-pouch anal anastomosis on the surgical treatment of familial adenomatous polyposis and ulcerative colitis: analysis of 49 cases

    Directory of Open Access Journals (Sweden)

    Bruno Amaral Medeiros

    2012-09-01

    Full Text Available OBJECTIVE: To evaluate the results of ileal J-pouch anal anastomosis in ulcerative colitis and familial adenomatous polyposis. METHOD: Retrospective analysis of medical records of 49 patients submitted to ileal J-pouch anal anastomosis. RESULTS: Ulcerative colitis was diagnosed in 65% and familial adenomatous polyposis in 34%. Mean age was 39.5 years. 43% were male. Among familial adenomatous polyposis, 61% were diagnosed with colorectal cancer. Thirty-one percent of patients with ulcerative colitis was submitted to a previous surgical approach and 21% of these had toxic megacolon. Average hospital stay was 10 days. Post-operative complications occurred in 50% of patients with ulcerative colitis and 29.4% with familial adenomatous polyposis. Intestinal diversion was performed in 100% of ulcerative colitis and 88% of familial adenomatous polyposis. Pouchitis occurred in eight cases (seven ulcerative colitis and one FAP, requiring excision of the pouch in three ulcerative colitis. Mortality rate was 7.6%: two cases of carcinoma on the pouch and two post-operative complications. Late post-operative complications occurred in 22.4%: six familial adenomatous polyposis and five ulcerative colitis. Two patients had erectile dysfunction, and one retrograde ejaculation. One patient with severe perineal dermatitis was submitted to excision of the pouch. Incontinence occurred in four patients and two reported soil. Mean bowel movement was five times a day. CONCLUSION: Ileal J-pouch anal anastomosis is a safe surgery with acceptable morbidity and good functional results, if well indicated and performed in referral centers.OBJETIVO: Avaliar resultados da anastomose íleo-anal com bolsa ileal em J na colite ulcerativa e na polipose adenomatosa familiar. MÉTODO: Análise retrospectiva dos prontuários de 49 pacientes submetidos a anastomose íleo-anal com bolsa ileal em J. RESULTADOS: 65% de colite ulcerativa e 34% de polipose adenomatosa familiar. Idade m

  4. Activity of soluble aminopeptidase A and dipeptidyl peptidase IV and membrane-bound aminopeptidase B and pyroglutamyl peptidase I in adenoid hyperplasia, tonsillar hyperplasia and chronic tonsillitis.

    Science.gov (United States)

    Larrinaga, Gorka; Perez, Itxaro; Sanz, Begoña; Irazusta, Amaya; Zarrazquin, Idoia; Sanchez, Clara Elena; Sanchez, Carmen Elena; Rey, Ana Sanchez Del; Zabala, Aitor; Santaolalla, Francisco

    2011-11-01

    To analyze soluble and membrane-bound peptidase activities in the tonsils and adenoids removed from patients with adenoid hyperplasia, tonsillar hyperplasia and chronic tonsillitis. A total of 48 tissue samples from patients undergoing adenoidectomy and tonsillectomy for adenoid hyperplasia, tonsillar hyperplasia or chronic tonsillitis were analyzed. The catalytic activity of a pool of peptidases in the soluble (dipeptidyl peptidase IV, aminopeptidase A, aminopeptidase N and cystinyl aminopeptidase) and membrane-bound (prolyl endopeptidase, aspartyl aminopeptidase, aminopeptidase B and pyroglutamyl peptidase I) fractions was measured fluorometrically. The activity of membrane-bound aminopeptidase B was higher in cases of chronic tonsillitis and adenoid hyperplasia than in tonsillar hyperplasia, p=0.004. Soluble dipeptidyl peptidase IV and membrane-bound pyroglutamyl peptidase I were found to be more active in tissues from male chronic tonsillitis tissues, pchronic tonsillitis, soluble aminopeptidase A was found to have a higher level of activity in tissues from children than those from adults, p=0.005. Our results suggest a potential role of soluble aminopeptidase A, soluble dipeptidyl peptidase IV, membrane-bound aminopeptidase B and membrane-bound pyroglutamyl peptidase I in the pathobiology of adenoid hyperplasia, tonsillar hyperplasia and chronic tonsillitis that is differently regulated as a function of gender. These finfings may modify in the future the clinical approach to these diseases. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  5. Number theory arising from finite fields analytic and probabilistic theory

    CERN Document Server

    Knopfmacher, John

    2001-01-01

    ""Number Theory Arising from Finite Fields: Analytic and Probabilistic Theory"" offers a discussion of the advances and developments in the field of number theory arising from finite fields. It emphasizes mean-value theorems of multiplicative functions, the theory of additive formulations, and the normal distribution of values from additive functions. The work explores calculations from classical stages to emerging discoveries in alternative abstract prime number theorems.

  6. Pictures of focal nodular hyperplasia and hepatocellular adenomas

    Institute of Scientific and Technical Information of China (English)

    Christine; Sempoux; Charles; Balabaud; Paulette; Bioulac-Sage

    2014-01-01

    This practical atlas aims to help liver and non liver pa-thologists to recognize benign hepatocellular nodules on resected specimen. Macroscopic and microscopic views together with immunohistochemical stains illustrate typical and atypical aspects of focal nodular hyperplasia and of hepatocellular adenoma, including hepatocel-lular adenomas subtypes with references to clinical and imaging data. Each step is important to make a correct diagnosis. The specimen including the nodule and the non-tumoral liver should be sliced, photographed and all different looking areas adequately sampled for par-affin inclusion. Routine histology includes HE, trichrome and cytokeratin 7. Immunohistochemistry includes glu-tamine synthase and according to the above results ad-ditional markers such as liver fatty acid binding protein, C reactive protein and beta catenin may be realized to differentiate focal nodular hyperplasia from hepatocel-lular adenoma subtypes. Clues for differential diagnosis and pitfalls are explained and illustrated.

  7. How to Treat Hyperplasia of Prostate Based on TCM Differentiation

    Institute of Scientific and Technical Information of China (English)

    Wu Peitian; Duan Shumin

    2006-01-01

    @@ Hyperplasia of prostate, a frequently encountered disease often affecting males over 50 years old,belongs to the category of urinary retention in TCM.Its pathogenesis is deficiency of the kidney and accumulation of heat in the lower-jiao, which may lead to poor circulation of bladder-qi. It is a syndrome of deficiency complicated with excess.The disease often involves the bladder, the lung, the spleen and the kidney. Water metabolism in the body is closely related to the function of tri-jiao. A smooth urination must depend on normal qi flow in tri-jiao. Therefore, in treatment of hyperplasia of prostate, the function of the qi flow in tri-jiao must be always strengthened.

  8. [Laser tonsillectomy in tonsillar hyperplasia of early childhood].

    Science.gov (United States)

    Helling, K; Abrams, J; Bertram, W K; Hohner, S; Scherer, H

    2002-05-01

    Tonsillotomy, the partial resection of hyperplastic tonsils, is generally rejected in Germany as a treatment option for obstructions of the isthmus faucium in early childhood. We think this approach merits consideration. The favorable results obtained with tonsillotomy in the University Hospital Benjamin Franklin (n = 637), a private clinic, and an ENT practice with surgical facilities (n = 189) showed that there is no justification for adhering to literature reports of severe late complications with scarred tonsillar crypts and peritonsillar abscesses. No patient has developed any of these complications thus far. Following tonsillotomy, preoperative complaints (snoring, respiratory obstruction, dysphagia, and failure to grow) decreased considerably. Thus, tonsillotomy proved to be a suitable modality for treating tonsillar hyperplasia in early childhood. The prerequisite for long-term success is strict limitation of this intervention to the diagnosis of tonsillar hyperplasia.

  9. Muscle strength in girls with congenital adrenal hyperplasia.

    Science.gov (United States)

    Rodda, C; Jones, D A; Round, J; Grant, D B

    1987-05-01

    To assess whether exposure to excessive adrenal androgens increases muscle strength in girls with congenital adrenal hyperplasia, eighteen girls with 21 hydroxylase type congenital adrenal hyperplasia (CAH), aged 4.3-12.1 years were studied and compared with 78 healthy control girls aged 4-16 years. Maximum voluntary isometric strength was measured using a muscle testing chair, and the highest value from at least three attempts with each leg was recorded. Height and weight were also measured in the patients and controls. When compared with normal girls of similar age, some of the girls with CAH seemed unusually strong, but this difference was less marked when the CAH girls were compared with controls of similar weights. However, our data suggest that girls diagnosed later in childhood may have unusual muscle strength.

  10. Oral focal epithelial hyperplasia: report of three cases.

    Science.gov (United States)

    Ghalayani, Parichehr; Tavakoli, Payam; Eftekhari, Mehdi; Haghighi, Mohammad Akhondzadeh

    2015-01-01

    Focal epithelial hyperplasia or Heck's disease is an infrequent asymptomatic condition caused by human papillomavirus types 13 or 32 affecting the mucous membrane of the mouth and is commonly seen in young individuals. Firstly, it was described in Indians and Eskimos, but it exists in various populations. We present three cases of Heck's disease in an Afghan immigrant family group living in Iran that seem to have familial predominance. The disease was identified as oral focal epithelial hyperplasia on the basis of histopathologic and clinical findings. The lesions were reduced significantly after 4 months of good oral hygiene. Dentists should be familiar with the clinical manifestations of these types of lesions that affect the oral cavity. In fact, histopathologic assessment and clinical observation are necessary to establish the diagnosis.

  11. Focal epithelial hyperplasia (Heck's disease) in two Chinese females.

    Science.gov (United States)

    Liu, N; Li, Y; Zhou, Y; Zeng, X

    2012-08-01

    Focal epithelial hyperplasia, or Heck's disease, is a relatively rare virus-induced benign disease. To the best of the authors' knowledge it has not been reported in an ethnic Chinese population. The authors report two cases of focal epithelial hyperplasia (FEH) in Chinese patients, which were clinically and histologically in accord with FEH. In particular, the lesions in one case were located on the gingival mucosa, which is rarely affected by FEH. DNA extracted from paraffin-embedded specimens from the two patients was tested for the presence of human papilloma virus followed by specific polymerase chain reaction testing for 16, 18, 13, and 32 subtypes in order to confirm the clinical diagnosis.

  12. Atypical epithelial hyperplasia of the breast: state of the art.

    Science.gov (United States)

    Dion, Ludivine; Racin, Adelaïde; Brousse, Susie; Beltjens, Françoise; Cauchois, Aurélie; Levêque, Jean; Coutant, Charles; Lavoué, Vincent

    2016-09-01

    Atypical epithelial hyperplasia (AEH) of the breast is considered benign histological lesions with breast cancer risk. This review focuses on clinical signification and management of AEH that remains controversial. A review of published studies was performed using medline database. In this review, we fully describe the current evidence available. In particular, we describe 1) data from immunohistochemistry and molecular studies that suggest AEH is a precursor of breast cancer; 2) epidemiological studies demonstrate low rate of breast cancer in women with AEH; 3) surgical excision is necessary after diagnosis of AEH, such as lobular carcinoma in situ or atypical ductal hyperplasia, on core needle biopsy; 4) although current recommendations are evolving to fewer (if not no) excisions for flat epithelial with atypia and classic lobular neoplasia found on percutaneous biopsy (without radiologic indications for excision). Expert commentary: HEA management steel need prospective evidences, but recent retrospective data give some clue for less invasive management for some of HEA.

  13. Treatment of focal epithelial hyperplasia with trichloroacetic acid

    Directory of Open Access Journals (Sweden)

    J Harris Ricardo

    2012-12-01

    Full Text Available Focal epithelial hyperplasia is a benign disease which has a chronic course that manifests as characteristic multiple small papules or nodules. They are predominantly found in the oral mucosa, gingiva and tongue. The surface of the lesions is smooth and it varies in size. It is an asymptomatic disease caused by human papillomavirus, affecting mainly children and adolescents. In this report, we describe four cases referred to the Stomatology and Oral Surgery Department of the Faculty of Dentistry, Cartagena University with a diagnosis of focal epithelial hyperplasia. Clinical features and histopathological characteristics of the patients were recorded. We also describe the properties and advantages of trichloroacetic acid as a therapeutic method.

  14. Aberrant methylation of the adenomatous polyposis coli (APC) gene promoter 1A in breast and lung carcinomas.

    Science.gov (United States)

    Virmani, A K; Rathi, A; Sathyanarayana, U G; Padar, A; Huang, C X; Cunnigham, H T; Farinas, A J; Milchgrub, S; Euhus, D M; Gilcrease, M; Herman, J; Minna, J D; Gazdar, A F

    2001-07-01

    The adenomatous polyposis coli (APC) gene is a tumor suppressor gene associated with both familial and sporadic cancer. Despite high rates of allelic loss in lung and breast cancers, point mutations of the APC gene are infrequent in these cancer types. Aberrant methylation of the APC promoter 1A occurs in some colorectal and gastric malignancies, and we investigated whether the same mechanism occurs in lung and breast cancers. The methylation status of the APC gene promoter 1A was analyzed in 77 breast, 50 small cell (SCLC), and 106 non-small cell (NSCLC) lung cancer tumors and cell lines and in 68 nonmalignant tissues by methylation-specific PCR. Expression of the APC promoter 1A transcript was examined in a subset of cell lines by reverse transcription-PCR, and loss of heterozygosity at the gene locus was analyzed by the use of 12 microsatellite and polymorphic markers. Statistical tests were two-sided. Promoter 1A was methylated in 34 of 77 breast cancer tumors and cell lines (44%), in 56 of 106 NSCLC tumors and cell lines (53%), in 13 of 50 SCLC cell lines (26%), and in 3 of 68 nonmalignant samples (4%). Most cell lines tested contained the unmethylated or methylated form exclusively. In 27 cell lines tested, there was complete concordance between promoter methylation and silencing of its transcript. Demethylation with 5-aza-2'-deoxycytidine treatment restored transcript 1A expression in all eight methylated cell lines tested. Loss of heterozygosity at the APC locus was observed in 85% of SCLCs, 83% of NSCLCs, and 63% of breast cancer cell lines. The frequency of methylation in breast cancers increased with tumor stage and size. In summary, aberrant methylation of the 1A promoter of the APC gene and loss of its specific transcript is frequently present in breast and NSCLC cancers and cell lines and, to a lesser extent, in SCLC cell lines. Our findings may be of biological and clinical importance.

  15. Association between Hepatitis C Virus Infection, p53 Phenotypes, and Gene Variants of Adenomatous Polyposis Coli in Hepatocellular Carcinomas

    Science.gov (United States)

    Council, Leona N; Shanmugam, Chandrakumar; Suswam, Esther A; Katkoori, Venkat R; Heslin, Martine J; Hanna, Alex; Jhala, Nirag C; Varambally, Sooryanarayana; Manne, Upender

    2017-01-01

    Objective To investigate the clinical value of p53 codon 72 single nucleotide polymorphisms (SNPs) and variants of adenomatous polyposis coli (APC) in hepatocellular carcinomas (HCCs). Methods DNA and RNA from 51 HCCs and their matching, uninvolved liver tissues were analyzed for p53 mutations, and the methylation and expression of APC variants were determined. Proliferation of each HCC was assessed by Ki67 immunohistochemistry. The results were correlated with the demographic and clinicopathologic features and patient survival. Results Of 51 HCCs, 12% exhibited missense p53 mutations. SNP analysis of p53 codon 72 demonstrated the highest prevalence of the Arg/Arg (56%) phenotype, followed by Arg/Pro (33%) and Pro/Pro (11%). Four of five cases with the Pro/Pro phenotype were African Americans (AAs). All five cases with the Pro/Pro phenotype had hepatitis C virus (HCV) infections, a high Ki67 index, and lower median survival (15.5 months) compared to those with Arg/Arg or Arg/Pro phenotypes (32 months). The overall frequency of APC methylation was 31%, which was found predominantly in Caucasians. There was lower mRNA expression of APC variants-2 and -3 in both HCCs and corresponding adjacent, uninvolved liver tissues as compared to APC variant-1. The expression of APC variant-3, but not variants-1 and -2, was lower in HCCs relative to uninvolved tissues. Expression of all APC variants was lower in HCCs with APC methylation relative to HCCs without APC methylation, and low expression of APC variant-2 was associated with the Pro/Pro phenotype. Conclusions These findings suggest that, for AA patients with HCCs, the p53 Pro/Pro phenotype and low expression of APC variant-2 are associated with aggressive tumor behavior, HCV infection, and poor clinical outcome.

  16. Deficiency of Adenomatous Polyposis Coli protein in sporadic colorectal adenomas and its associations with clinical phenotype and histology

    Institute of Scientific and Technical Information of China (English)

    Martin Bortlík; Ivana Vítková; Martina Pape(z)ová; Milada Kohoutová; Ale(s) Novotn(y); Stanislav Adamec; Petra Chalupná; Milan Luká(s)

    2006-01-01

    AIM: To evaluate the frequency of the loss of the Adenomatous Polyposis Coli (APC) protein and to compare the APC status with the characteristics of colorectal adenomas.METHODS: Immunohistochemical analysis of the APC protein was performed on 118 adenomas and the results were compared with parameters of malignant potential,location of adenomas, macroscopic appearance and age of the patients.RESULTS: A complete loss of the APC protein was found in 28 (24%) adenomas, while 90 (76%) were APC positive. The mean size of adenomas was 13.5 ± 14.2 mm (95% CI 10.5-16.5) in APC-positive, and 13.8 ± 15.5mm (95% CI 7.8-19.8) in APC-negative adenomas (P = 0.364). Statistical analysis revealed no difference between APC-positive and negative adenomas as to the histological type (P = 0.327) and grade of dysplasia (P =0.494). We found that even advanced adenomas did not differ in their APC status from the non-advanced tumors (P = 0.414). Finally, no difference was found when the location (P = 0.157), macroscopic appearance (P =0.571) and age of patients (P = 0.438) were analysed and compared between both APC positive and negative adenomas.CONCLUSION: Most adenomas expressed full-length APC protein, suggesting that protein expression is not a reliable marker for assessment of APC gene mutation.Complete loss of APC protein did not influence morphology, location, or appearance of adenomas, nor was it affected by the patient's age.

  17. Adenomatous polyposis coli alteration in digestive endocrine tumours: correlation with nuclear translocation of beta-catenin and chromosomal instability.

    Science.gov (United States)

    Pizzi, Silvia; Azzoni, Cinzia; Tamburini, Elisa; Bottarelli, Lorena; Campanini, Nicoletta; D'Adda, Tiziana; Fellegara, Giovanni; Luong, Tu Vinh; Pasquali, Claudio; Rossi, Giulio; Delle Fave, Gianfranco; Camisa, Roberta; Bordi, Cesare; Rindi, Guido

    2008-12-01

    The role of Wnt pathway in digestive endocrine tumours is debated. The aim of this work is to investigate key players in Wnt pathway by a multimodal approach. Sixty cases (49 well-differentiated and 11 poorly differentiated) were investigated for methylation of adenomatous polyposis coli (APC) and E-cadherin promoters, the loss of heterozygosity (LOH) at APC locus and beta-catenin and E-cadherin expression by immunohistochemistry. Tumours showing altered beta-catenin localization were tested for beta-catenin and APC mutations. APC promoter methylation was restricted to gastroduodenal tumours (21 out of 59, 36%), prevalent in poorly differentiated carcinomas (P=0.042) and correlating with aggressive features (high histology grade, P<0.02; tumour death, P=0.026; high fractional allelic loss, P=0.002, in turn correlating with short survival, P=0.017). LOH at APC locus was found in 14 out of 53 cases (26%, 10 gastroduodenal and 4 colorectal), prevalent in poorly differentiated carcinomas (P=0.002) and correlating with histology grade (P=0.012). beta-catenin abnormal expression was found in 41 out of 54 cases (76%), with nuclear staining correlating with APC alteration (P=0.047) and short survival (P=0.006). APC, but not beta-catenin, gene mutations were found (7 out of 35 tumours), 4 of which in the midgut. E-cadherin promoter methylation was rarely detected (2 out of 52 cases), with cytoplasmic expression in 18 out of 43 cases (42%), not correlating with any clinico-pathological feature. In conclusion, Wnt pathway alterations, as represented by abnormal beta-catenin localization, are common events in digestive endocrine tumours, but only nuclear expression correlates with tumour aggressiveness. Though with different alteration mechanisms according to anatomical site, APC plays a major role in Wnt pathway activation and in determining the high chromosomal instability observed in aggressive endocrine carcinomas.

  18. Can supplementation of phytoestrogens/insoluble fibers help the management of duodenal polyps in familial adenomatous polyposis?

    Science.gov (United States)

    Calabrese, Carlo; Rizzello, Fernando; Gionchetti, Paolo; Calafiore, Andrea; Pagano, Nico; De Fazio, Luigia; Valerii, Maria Chiara; Cavazza, Elena; Strillacci, Antonio; Comelli, Maria Cristina; Poggioli, Gilberto; Campieri, Massimo; Spisni, Enzo

    2016-06-01

    Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder, and prophylactic colectomy has been shown to decrease the incidence of colorectal cancer (CRC). Duodenal cancer and desmoids are now the leading causes of death in FAP. We evaluate whether 3 months of oral supplementation with a patented blend of phytoestrogens and indigestible insoluble fibers (ADI) help the management of FAP patients with ileal pouch-anal anastomosis (IPAA). In a prospective open label study, we enrolled 15 FAP patients with IPAA and duodenal polyps who underwent upper gastrointestinal endoscopy at baseline and after 3 months of treatment. The primary endpoint was the change in gene expression in polyp mucosa, whereas the secondary endpoint was the reduction in polyp number and size. After 3 months of ADI treatment, all patients showed a reduction in the number and size of duodenal polyps (P = 0.021). Analysis of the expression of CRC promoting/inhibiting genes in duodenal polyps biopsies demonstrated that different CRC-promoting genes (PCNA, MUC1 and COX-2) were significantly downregulated, whereas CRC-inhibiting genes (ER-β and MUC2) were significantly upregulated after ADI treatment. In conclusion, ADI proved to be safe and effective, and its long-term effects on FAP patients need further investigation. Judging from the results we observed on COX-2 and miR-101 expression, the short-term effects of ADI treatment could be comparable with those obtained using COX-2 inhibitors, with the advantage of being much more tolerable in chronic therapies and void of adverse events.

  19. Adenomatous Polyposis Coli Protein Deletion in Efferent Olivocochlear Neurons Perturbs Afferent Synaptic Maturation and Reduces the Dynamic Range of Hearing

    Science.gov (United States)

    Hickman, Tyler T.; Liberman, M. Charles

    2015-01-01

    Normal hearing requires proper differentiation of afferent ribbon synapses between inner hair cells (IHCs) and spiral ganglion neurons (SGNs) that carry acoustic information to the brain. Within individual IHCs, presynaptic ribbons show a size gradient with larger ribbons on the modiolar face and smaller ribbons on the pillar face. This structural gradient is associated with a gradient of spontaneous rates and threshold sensitivity, which is essential for a wide dynamic range of hearing. Despite their importance for hearing, mechanisms that direct ribbon differentiation are poorly defined. We recently identified adenomatous polyposis coli protein (APC) as a key regulator of interneuronal synapse maturation. Here, we show that APC is required for ribbon size heterogeneity and normal cochlear function. Compared with wild-type littermates, APC conditional knock-out (cKO) mice exhibit decreased auditory brainstem responses. The IHC ribbon size gradient is also perturbed. Whereas the normal-developing IHCs display ribbon size gradients before hearing onset, ribbon sizes are aberrant in APC cKOs from neonatal ages on. Reporter expression studies show that the CaMKII-Cre used to delete the floxed APC gene is present in efferent olivocochlear (OC) neurons, not IHCs or SGNs. APC loss led to increased volumes and numbers of OC inhibitory dopaminergic boutons on neonatal SGN fibers. Our findings identify APC in efferent OC neurons as essential for regulating ribbon heterogeneity, dopaminergic terminal differentiation, and cochlear sensitivity. This APC effect on auditory epithelial cell synapses resembles interneuronal and nerve–muscle synapses, thereby defining a global role for APC in synaptic maturation in diverse cell types. Significance Statement This study identifies novel molecules and cellular interactions that are essential for the proper maturation of afferent ribbon synapses in sensory cells of the inner ear, and for normal hearing. PMID:26085645

  20. Restorative proctocolectomy or rectum-preserving surgery in patients with familial adenomatous polyposis: results of a prospective study.

    Science.gov (United States)

    Tonelli, F; Valanzano, R; Monaci, I; Mazzoni, P; Anastasi, A; Ficari, F

    1997-01-01

    Surgical treatment of familial adenomatous polyposis (FAP) is still controversial. From 1984 we carried out a prospective evaluation of total colectomy with ileorectal anastomosis (IRA) and restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) to determine differences in postoperative complications, functional results, occurrence of desmoids, and recurrence of polyps in the rectal stump. IRA was performed below the peritoneal reflection and was indicated in the absence of rectal cancer and in the presence of fewer than 10 polyps or minute polyposis in the last 10 cm of the rectal mucosa. IRA patients underwent a regular endoscopic follow-up and prolonged sulindac administration (100 mg twice daily). When criteria for IRA were absent, IPAA was performed adopting a manual anastomosis at the pectinate line. Fourteen patients were operated with IRA and 24 with IPAA. There was no difference in sex and age between the two groups of patients. The number of rectal polyps was significantly different in the two groups. Immediate postoperative complications were observed in only five IPAA patients, three of whom (12%) required reoperation. Late postoperative complications occurred more frequently in IRA patients (14%) than in IPAA patients (4%). Desmoids developed in both groups (five in the IRA group and four in IPAA group). The number of bowel movements was similar in both groups, but 25% of IPAA patients complained of nocturnal fecal soiling. Fulguration or polypectomy for recurrent polyps was necessary in all but two IRA patients at follow-up. The rectal stump was easily eradicated by polyps in all but four patients with minute polyps at surgery. In the latter patients a diffuse or carpeting rectal polyposis occurred. IPAA can give optimum control of colorectal polyposis in FAP patients with an acceptable incidence of postoperative complications and satisfactory functional results. This type of surgical procedure is indicated in most FAP patients, and IRA

  1. Adenomatous polyposis coli is required for early events in the normal growth and differentiation of the developing cerebral cortex

    Directory of Open Access Journals (Sweden)

    Price David J

    2009-01-01

    Full Text Available Abstract Background Adenomatous polyposis coli (Apc is a large multifunctional protein known to be important for Wnt/β-catenin signalling, cytoskeletal dynamics, and cell polarity. In the developing cerebral cortex, Apc is expressed in proliferating cells and its expression increases as cells migrate to the cortical plate. We examined the consequences of loss of Apc function for the early development of the cerebral cortex. Results We used Emx1Cre to inactivate Apc specifically in proliferating cerebral cortical cells and their descendents starting from embryonic day 9.5. We observed reduction in the size of the mutant cerebral cortex, disruption to its organisation, and changes in the molecular identity of its cells. Loss of Apc leads to a decrease in the size of the proliferative pool, disrupted interkinetic nuclear migration, and increased apoptosis. β-Catenin, pericentrin, and N-cadherin proteins no longer adopt their normal high concentration at the apical surface of the cerebral cortical ventricular zone, indicating that cell polarity is disrupted. Consistent with enhanced Wnt/β-catenin signalling resulting from loss of Apc we found increased levels of TCF/LEF-dependent transcription and expression of endogenous Wnt/β-catenin target genes (Axin2 (conductin, Lef1, and c-myc in the mutant cerebral cortex. In the Apc mutant cerebral cortex the expression of transcription factors Foxg1, Pax6, Tbr1, and Tbr2 is drastically reduced compared to normal and many cells ectopically express Pax3, Wnt1, and Wt1 (but not Wnt2b, Wnt8b, Ptc, Gli1, Mash1, Olig2, or Islet1. This indicates that loss of Apc function causes cerebral cortical cells to lose their normal identity and redirect to fates normally found in more posterior-dorsal regions of the central nervous system. Conclusion Apc is required for multiple aspects of early cerebral cortical development, including the regulation of cell number, interkinetic nuclear migration, cell polarity, and

  2. Differential Acupuncture Treatment of Hyperplasia of Mammary Glands

    Institute of Scientific and Technical Information of China (English)

    王进才

    2002-01-01

    @@ Hyperplasia of mammary glands is a common disease in the middle-aged women, and it is a precancerous lesion of mammary glands. For many years, the author has used Rugen (ST 18) of the Stomach Meridian of Foot-Yangming as the main point withcertain auxiliary points chosen on basis of the differentiation types to treat the disease and obtained satisfactory therapeutic effects. A report follows.

  3. Treatment of focal epithelial hyperplasia with trichloroacetic acid

    OpenAIRE

    J. Harris Ricardo; M. Carmona Lorduy; A. Díaz Caballero

    2012-01-01

    Focal epithelial hyperplasia is a benign disease which has a chronic course that manifests as characteristic multiple small papules or nodules. They are predominantly found in the oral mucosa, gingiva and tongue. The surface of the lesions is smooth and it varies in size. It is an asymptomatic disease caused by human papillomavirus, affecting mainly children and adolescents. In this report, we describe four cases referred to the Stomatology and Oral Surgery Department of the Faculty of Dentis...

  4. Orbital extension of supraorbital angiolymphoid hyperplasia with eosinophilia

    OpenAIRE

    Bangal SV; Chitgopekar RP; AK Gupta; Karle R

    2011-01-01

    Angiolymphoid hyperplasia with eosinophilia (ALHE) is a rare clinicopathologic entity that shares both clinical and histopathological features with Kimura disease. Although they were once considered as different stages of the same disease, they are now known to represent separate entities. ALHE is a condition that causes swellings in the head and neck region affecting muscular arteries and is benign in nature.1 Orbital involvement is unusual. Diagnosis of ALHE is frequently confused with mali...

  5. Intravascular papillary endothelial hyperplasia: An unusual histopathological entity.

    Science.gov (United States)

    Mahapatra, Qury S; Sahai, Kavita; Malik, Ajay; Mani, N S

    2015-01-01

    Intravascular papillary endothelial hyperplasia (Masson's tumor) is a benign lesion of the skin and subcutaneous tissue consisting of a reactive proliferation of endothelial cells with papillary formations related to a thrombus. It poses a diagnostic challenge as the clinical signs and symptoms are nonspecific and may mimic a soft tissue sarcoma. The diagnosis is based on histopathology. Here we report two cases of Masson's hemangioma occurring on the upper lip and on the left hand.

  6. Intravascular papillary endothelial hyperplasia: An unusual histopathological entity

    Directory of Open Access Journals (Sweden)

    Qury S Mahapatra

    2015-01-01

    Full Text Available Intravascular papillary endothelial hyperplasia (Masson′s tumor is a benign lesion of the skin and subcutaneous tissue consisting of a reactive proliferation of endothelial cells with papillary formations related to a thrombus. It poses a diagnostic challenge as the clinical signs and symptoms are nonspecific and may mimic a soft tissue sarcoma. The diagnosis is based on histopathology. Here we report two cases of Masson′s hemangioma occurring on the upper lip and on the left hand.

  7. US findings of fibroadenomatoid hyperplasia of the breast

    Energy Technology Data Exchange (ETDEWEB)

    Yi, Mi Gyung; Hwang, Mi Soo; Lee, Jae Kyo; Park, Bok Hwan [Yeungnam University College of Medicine, Taegu (Korea, Republic of)

    2000-09-15

    To evaluate the ultrasonographic appearance of fibroadenomatoid hyperplasia of the breast. We retrospectively reviewed US findings including size, shape, border, boundary echo, internal echo, posterior echo, lateral echo, and transverse/anteroposterior diameter of 19 patients (mean age 36.6 years) with pathologically proven fibrodenomatoid hyperplasia. Mammogramas were available in 18 patients. On US size, shape, border, internal echo, boundary echo, posterior echo, lateral echo, the ratio of transverse to anteroposterior diameter were analyzed by two radiologist in agreement. Fifteen of 19 patients presented with palpable masses. On US, the mean size of the masses was 13 mm (range, 4-26 mm). The shape of lesions were round to oval in 10 cases (53%), lobulated in 6 cases (32%), irregular in 3 cases (15%). The borders of the lesions were sharp-well defined in 11 cases (58%), unsharp-ill defined in 8 cases (42%). Fourteen cases(74%) showed fine homogeneous internal echo and 5 cases (26%) showed coarse heterogeneous internal echo. Nonexistent or regular fine boundary echo was shown in 11 cases (58%) and irregular thick boundary echo was shown in 8 cases (42%).Posterior sonic enhancement was shown in 10 cases (53%), posterior sonic shadowing in 6 cases (32%). And three cases (15%) showed no posterior echo. Marked lateral echo was demonstrated in 11 cases (58%). The transverse/anteroposterior diameter ratio ranged between 1.0 and 1.5 in 1 case (5.5%), below 1.0 in 1 case (5.5%), and above 1.5 and 17 cases (89%). Mammogram showed no abnormality in ten patients with dense breast, mass like density in seven patients, and clustered microcalcification in one patient. Fibroadenomatoid hyperplasia was usually presented in fourth decade as a palpable breast mass and common US findings were similar to fibroadenoma. However, histopathologic confirmation was needed for the diagnosis because fibroadenomatoid hyperplasia sometimes showed the US features of malignancy.

  8. Intravascular papillary endothelial hyperplasia of the mandibular lingual mucosa

    Institute of Scientific and Technical Information of China (English)

    Benay Tokman; (S)ebnem (S)im(s)ek; Erkan Erkmen; Tülin Oygur

    2004-01-01

    @@ In 1923, Masson1 described an unusual papillary endothelial proliferation that he named as "hemangioendotheliome vegetant intravasculaire". In 1976, Clearkin and Enzinger2 coined the term intravascular papillary endothelial hyperplasia (IPEH) that is now in use. This term refers to the presence of endothelium lined papillary projections within a vascular space. Characteristically, the papillary structures are composed of a single layer of swollen or plump endothelial cells without cellular pleomorphism, mitotic activity or necrosis.

  9. Pituitary hyperplasia: a complication of the pseudomalabsorption of thyroxine

    Directory of Open Access Journals (Sweden)

    Doyle MA

    2013-04-01

    Full Text Available Mary-Anne Doyle, Heather A Lochnan Division of Endocrinology, University of Ottawa, Ottawa, ON, Canada Objective: “The pseudomalabsorption of thyroxine” has been used to describe patients with hypothyroidism who fail to comply with their treatment. We describe a unique case of a 32-year-old with hypothyroidism who developed pituitary hyperplasia and hyperprolactinemia secondary to the pseudomalabsorption of thyroxine. Investigations and treatment: After baseline thyroid-function tests were performed, the patient was administered levothyroxine 0.5 mg under the supervision of a registered nurse. Thyroid function testing was repeated at 30, 60, 120, and 180 minutes. Arrangements were made for further daily supervised loading of levothyroxine 0.1 mg. Results: With the administration of 0.5 mg levothyroxine, free thyroxine levels increased by 120 minutes, and with daily supervised dosing of 0.1 mg there was normalization of the thyroid hormone levels and a reduction of thyroid-stimulating hormone levels. Maintenance of thyroid-stimulating hormone < 15 mU/L for 2 weeks led to a reduction in prolactin levels and regression in the size of the pituitary on magnetic resonance imaging. Conclusion: If left untreated, these patients face significant morbidity and are at risk of developing pituitary hyperplasia, complications from an increase in pituitary size, hyperprolactinemia, and potentially myxedema coma. Recognizing pituitary hyperplasia and hyperprolactinemia as a complication from the pseudomalabsorption of levothyroxine may prevent the potential of a misdiagnosis of a prolactinoma leading to unnecessary investigations and inappropriate treatment. Patient awareness of this serious complication and the rapid, demonstrable resolution with adequate thyroid hormone replacement may provide motivation to comply with supervised dosing of levothyroxine. It has also been suggested that supervised treatment enables the individual to maintain their patient

  10. Treatment of focal epithelial hyperplasia with trichloroacetic acid

    OpenAIRE

    J. Harris Ricardo; M. Carmona Lorduy; A. Díaz Caballero

    2012-01-01

    Focal epithelial hyperplasia is a benign disease which has a chronic course that manifests as characteristic multiple small papules or nodules. They are predominantly found in the oral mucosa, gingiva and tongue. The surface of the lesions is smooth and it varies in size. It is an asymptomatic disease caused by human papillomavirus, affecting mainly children and adolescents. In this report, we describe four cases referred to the Stomatology and Oral Surgery Department of the Faculty of Dentis...

  11. Epithelial Focal Hyperplasia or Heck Disease. Case presentation

    OpenAIRE

    Jorge Luis Valdés González; Urbano Solis Cartas; Marian Muñoz Balbín; Elda María Valdés González

    2016-01-01

    Epithelial Focal Hyperplasia or Heck disease is an infrequent disease of the oral mucosa. It mainly affects children, without distinguishing sex or ethnic group. It is clinically characterized by the presence of white papules or of similar colour of the oral mucosa, small size, asymptomatic and with the tendency to converge and form papillomatous lesions. This disease has been associated with infection by human papilloma virus and genetic factors. A case of an eight year old girl is presented...

  12. Androgen Receptor Roles in the Development of Benign Prostate Hyperplasia

    OpenAIRE

    IZUMI, KOUJI; Mizokami, Atsushi; Lin, Wen-Jye; Lai, Kuo-Pao; Chang, Chawnshang

    2013-01-01

    Benign prostate hyperplasia (BPH) is a major cause of lower urinary tract symptoms, with an increased volume of transitional zone and associated with increased stromal cells. It is known that androgen/androgen receptor (AR) signaling plays a key role in development of BPH, and that blockade of this signaling decreases BPH volume and can relieve lower urinary tract symptoms, but the mechanisms of androgen/AR signaling in BPH development remain unclear, and the effectiveness of current drugs fo...

  13. Primary hypothyroidism presenting as pituitary hyperplasia with hyperprolactinemia

    Directory of Open Access Journals (Sweden)

    Xiao-ling YAN

    2016-04-01

    Full Text Available Objective To discuss the histological characteristics, immunohistochemical phenotypes, diagnosis and differential diagnosis, treatment and prognosis of one case of primary hypothyroidism presenting as pituitary hyperplasia concurrent with hyperprolactinemia.  Methods and Results A 29-year-old female presented menoxenia for one year, galactorrhea for 3 months, and headache for one week. Head MRI demonstrated a sellar space-occcupying lesion and a pituitary adenoma was suspected. Therefore, the patient underwent an exploratory surgery via transnasal-sphenoidal approach under general anesthesia. During the surgery the lesion was located in the right side of sella turcica. It was hard, tough and gray with poor blood supply. Under optical microscopy, the acinar cells showed a diffuse hyperplasia, with focal nodular expansion. The boundary between hyperplastic and normal acinus was ill-defined. By using immunohistochemical staining, the hyperplastic cells were diffusely positive for synaptophysin (Syn and thyroid stimulating hormone (TSH, partially positive for prolactin (PRL, and negative for thyoid transcription factor-1 (TTF-1. Lymphocytes were scatteredly positive for leukocyte common antigen (LCA. Ki-67 labeling index was less than 1%. Pathological diagnosis was pituitary hyperplasia. The final clinical diagnosis was hypothyroidism. The patient took levothyroxine sodium (Euthyrox 100 μg/d continously, and was well during the 13-month follow-up.  Conclusions Preopertive diagnosis of pituitary hyperplasia is difficult.Definite diagnosis could be made by clinical history, typical histopathological characteristics and immunohistochemical phenotypes. Differential diagnosis from pituitary adenoma, especially microadenoma, should be paid attention. DOI: 10.3969/j.issn.1672-6731.2016.04.009

  14. Leydig cell hyperplasia in the setting of Klinefelter syndrome.

    Science.gov (United States)

    Sterbis, Joseph; E-Nunu, Toritsetimiyin

    2015-07-24

    A man in his 20's with Klinefelter syndrome presented to the urology clinic with a recent history of left-sided orchalgia. Ultrasound evaluation demonstrated multiple small hypoechoic lesions bilaterally, with the largest lesion measured at 5 mm × 6 mm × 8 mm. Testis cancer tumour markers, chest radiographs and abdominal CT imaging were negative. A partial orchiectomy was performed on the largest lesion, demonstrating the presence of Leydig cell hyperplasia.

  15. Suppression of benign prostate hyperplasia by Kaempferia parviflora rhizome

    OpenAIRE

    Kazuya Murata; Hirotaka Hayashi; Shinichi Matsumura; Hideaki Matsuda

    2013-01-01

    Background: Kaempferia parviflora rhizome is used as a folk medicine in Thailand for the treatment of various symptoms. In the present study, the inhibitory activities of extract from K. parviflora rhizome against 5a-reductase (5aR) were subjected. Furthermore, the effects of the extract from K. parviflorar hizome in benign prostate hyperplasia (BPH) were studied using the model mice. Materials and Methods: Preparations of extracts from the rhizomes of K. parviflora, Curcuma zedoaria and Zing...

  16. Gastrointestinal hyperplasia with altered expression of DNA polymerase beta.

    Directory of Open Access Journals (Sweden)

    Katsuhiko Yoshizawa

    Full Text Available BACKGROUND: Altered expression of DNA polymerase beta (Pol beta has been documented in a large percentage of human tumors. However, tumor prevalence or predisposition resulting from Pol beta over-expression has not yet been evaluated in a mouse model. METHODOLOGY/PRINCIPAL FINDINGS: We have recently developed a novel transgenic mouse model that over-expresses Pol beta. These mice present with an elevated incidence of spontaneous histologic lesions, including cataracts, hyperplasia of Brunner's gland and mucosal hyperplasia in the duodenum. In addition, osteogenic tumors in mice tails, such as osteoma and osteosarcoma were detected. This is the first report of elevated tumor incidence in a mouse model of Pol beta over-expression. These findings prompted an evaluation of human gastrointestinal tumors with regard to Pol beta expression. We observed elevated expression of Pol beta in stomach adenomas and thyroid follicular carcinomas, but reduced Pol beta expression in esophageal adenocarcinomas and squamous carcinomas. CONCLUSIONS/SIGNIFICANCE: These data support the hypothesis that balanced and proficient base excision repair protein expression and base excision repair capacity is required for genome stability and protection from hyperplasia and tumor formation.

  17. Temporomandibular joint ankylosis contributing to coronoid process hyperplasia.

    Science.gov (United States)

    Wang, W H; Xu, B; Zhang, B J; Lou, H Q

    2016-10-01

    The purpose of this study was to investigate the association between coronoid process hyperplasia and temporomandibular joint (TMJ) ankylosis and to analyze the pathological mechanism and clinical significance of coronoid process hyperplasia. Forty-four patients treated for TMJ ankylosis between January 2007 and December 2014 were studied retrospectively; 176 patients with normal TMJs served as controls. The original DICOM data were used to reconstruct the jaw, and a three-dimensional cephalometric analysis (SimPlant Pro software version 11.04) was performed to assess the association between the severity of TMJ ankylosis and the height of the coronoid process. The height of the coronoid process was 20.41±5.00mm in the case group and 14.86±2.67mm in the control group; there was a significant difference between the two groups (Pprocess hyperplasia. Therefore, attention should be drawn to the coronoid process in patients with TMJ ankylosis. A coronoidectomy together with arthroplasty is recommended in patients with TMJ ankylosis.

  18. Papilloma with myoepithelial hyperplasia in breast: a rare cytology diagnosis

    Directory of Open Access Journals (Sweden)

    Chetna Sharma

    2015-02-01

    Full Text Available Papillary neoplasm of breast with myoepithelial hyperplasia is a rare entity. Interpretation of papillary lesions of the breast remains a challenging task because of the wide morphologic spectrum encountered in benign, atypical and malignant subtypes. We present an interesting and rare case of a 37 year old female reported to surgical out-patient department with complaints of lump in right breast for 2 years. Mammogram diagnosis was Intraductal malignancy with Birads score V. Fine needle aspiration cytology of the lesion did not reveal features of malignancy and a diagnosis of papillary neoplasm with myoepithelial hyperplasia was rendered. Excision biopsy of the lump showed multiple papillomatosis with marked myoepithelial hyperplasia. The diagnosis of this entity by Fine needle aspiration cytology is crucial as it is a rare diagnosis and it can mimic malignancy, radiologically and clinically. It is imperative to rule out malignancy in such cases as it changes the treatment plan dramatically. [Int J Res Med Sci 2015; 3(2.000: 506-508

  19. Mandibular condylar hyperplasia: clinical, histopathological, and treatment considerations.

    Science.gov (United States)

    Angiero, Francesca; Farronato, Giampietro; Benedicenti, Stefano; Vinci, Raffaele; Farronato, Davide; Magistro, Sarah; Stefani, Michele

    2009-01-01

    Condylar hyperplasia is a rare disorder characterized by an increased volume of the condyle, ramus, and mandibular body leading to facial asymmetry. We present three cases of condylar hyperplasia: two women and one man, age range 27 to 34. Clinically, all three patients showed a deviation of the mandible to the opposite side and a protruded position of the chin, hypertrophy of the lower border of the mandible, combined with an elongation of the mandibular ramus, open-bite on the deformed side, and cross-bite on the opposite side. In all three cases, scintigraphy showed an increased uptake. Radiography and CT scanning confirmed the clinical diagnosis and patients were subjected to surgery, comprising high condylectomy on the affected side with access in the pre-tragus area. The surgical piece sent to the Institute of Pathological Anatomy for histological examination revealed a nonuniform picture, in terms of both the depth of cartilage islands and the thickness of the fibrous layer covering the joint surface. Common to all three cases, however, was the apparent evolution of fibrous tissue to cartilage, and of this to compact bone tissue. At two-four years, all cases have maintained a good occlusal response. The asymmetric deformity of the mandible resulting from the rare condition of hemimandibular hyperplasia is presented and the clinical, histopathological and therapeutic aspects discussed.

  20. Phytotherapeutic Agents for Benign Prostatic Hyperplasia: An Overview.

    Science.gov (United States)

    Passi, Neelima Dhingra

    2016-06-20

    Benign prostatic hyperplasia (BPH) the most common condition in aging men is the non malignant enlargement of the prostate gland with increase in numbers of both epithelial and stromal cells within the periurethal transition zone of the prostate. Sources of symptoms in patient with BPH appear to be both static and dynamic component. Management of BPH has undergone a rapid evolution over the past decade to aid men with lower urinary tract symptoms attributed to bladder outlet obstruction. Treatment of clinical BPH aims to improve symptoms, prevent urinary tract infections, avoid renal insult, relief obstruction and improve bladder emptying.Prostate cancer patients and those with benign prostatic hyperplasia are increasingly exploring the use of plant derived non-nutritive compounds with protective or disease preventive properties, especially due to long term side effects of pharmacological treatment and risk of mortality associated with surgical procedures. Phytotherapeutic preparations are plant extracts with different components obtained by different extraction procedures. Numerous mechanisms of action have been postulated for mono and combination plant extracts. This article give a brief account of rationale and efficacy of various existing phytotherapeutic agents in the management of benign prostatic hyperplasia, including the herbs which hold the potential promise are also mentioned , although much research is still required.

  1. Social dominance in tilapia is associated with gonadotroph hyperplasia.

    Science.gov (United States)

    Golan, Matan; Levavi-Sivan, Berta

    2013-10-01

    Tilapias are emerging as one of the most important fish in worldwide aquaculture and are also widely used as model fish in the study of reproduction and behavior. During the reproductive season, male tilapia are highly territorial and form spawning pits in which the dominant males court and spawn with available females. Non-territorial males stand a much lower chance of reproducing. Using transgenic tilapia in which follicle stimulating hormone (FSH) gonadotrophs were fluorescently labeled with enhanced green fluorescent protein (EGFP), we studied the effect of social dominance on the hormonal profile and pituitary cell populations in dominant and non-dominant males. Immunofluorescence studies showed that FSH-EGFP-transgenic fish reliably express EGFP in FSH-secreting cells. EGFP expression pattern differed from that of luteinizing hormone. Dominant males had larger gonads as well as higher levels of androgens and gonadotropins in the plasma. Pituitaries of dominant males exhibited higher gonadotropin content and gene expression. Flow cytometry revealed pituitary hyperplasia as well as FSH cell hyperplasia and increased granulation. Taken together, these findings suggest that gonadotroph hyperplasia as well as increased production by individual cells underlie the increased reproductive activity of dominant tilapia males.

  2. Pseudoepitheliomatous hyperplasia after diode laser oral surgery. An experimental study

    Science.gov (United States)

    Seoane, Juan; González-Mosquera, Antonio; García-Martín, José-Manuel; García-Caballero, Lucía; Varela-Centelles, Pablo

    2015-01-01

    Background To examine the process of epithelial reparation in a surgical wound caused by diode laser. Material and Methods An experimental study with 27 Sprage-Dawley rats was undertaken. The animals were randomly allocated to two experimental groups, whose individuals underwent glossectomy by means of a diode laser at different wattages, and a control group treated using a number 15 scalpel blade. The animals were slaughtered at the 2nd, 7th, and 14th day after glossectomy. The specimens were independently studied by two pathologists (blinded for the specimens’ group). Results At the 7th day, re-epithelisation was slightly faster for the control group (conventional scalpel) (p=0.011). At the 14th day, complete re-epithelization was observed for all groups. The experimental groups displayed a pseudoepitheliomatous hyperplasia. Conclusions It is concluded that, considering the limitations of this kind of experimental studies, early re-epithelisation occurs slightly faster when a conventional scalpel is used for incision, although re-epithelisation is completed in two weeks no matter the instrument used. In addition, pseudoepitheliomatous hyperplasia is a potential event after oral mucosa surgery with diode laser. Knowledge about this phenomenon (not previously described) may prevent diagnostic mistakes and inadequate treatment approaches, particularly when dealing with potentially malignant oral lesions. Key words:Diode laser, animal model, oral biopsy, oral cancer, oral precancer, pseudoepitheliomatous hyperplasia. PMID:26116841

  3. Verrucous hemangioma with pseudoepitheliomatous epidermal hyperplasia in an adult horse.

    Science.gov (United States)

    Pérez-Écija, A; Estepa, J C; Barranco, I; Rodríguez-Gómez, I M; Mendoza, F J; Gómez-Laguna, J

    2014-09-01

    Verrucous hemangiomas are a rare specific variant of equine skin tumors not well described in the literature. An 8-year-old gelding presented a unilateral lesion on the pastern. Macroscopically, the mass showed a warty and verrucous surface with focal ulcerations. The histology showed a dermal proliferation of endothelial-layered capillaries and venules separated by a delicate stroma of scant fibroblasts and collagen deposition, with pseudoepitheliomatous hyperplasia (exuberant reactive irregular epithelial hyperplasia with tongue-like projections extending into the dermis, mimicking downgrowth of squamous cell carcinoma) and orthokeratotic hyperkeratosis of the overlying epidermis. The immunohistochemical study confirmed the endothelial origin of the tumor, and a final diagnosis of verrucous hemangioma with pseudoepitheliomatous hyperplasia was confirmed. To the knowledge of the authors, this is the first detailed description of this entity in adult horses. Moreover, the clinical progression and epidermal changes have not been previously reported, emphasizing the importance of a pathological study of any epithelial preneoplastic lesion to rule out an underlying dermal neoplasia. © The Author(s) 2013.

  4. Sonic hedgehog-induced histone deacetylase activation is required for cerebellar granule precursor hyperplasia in medulloblastoma.

    Directory of Open Access Journals (Sweden)

    Seung Joon Lee

    Full Text Available Medulloblastoma, the most common pediatric brain tumor, is thought to arise from deregulated proliferation of cerebellar granule precursor (CGP cells. Sonic hedgehog (Shh is the primary mitogen that regulates proliferation of CGP cells during the early stages of postnatal cerebellum development. Aberrant activation of Shh signaling during this time has been associated with hyperplasia of CGP cells and eventually may lead to the development of medulloblastoma. The molecular targets of Shh signaling involved in medulloblastoma formation are still not well-understood. Here, we show that Shh regulates sustained activation of histone deacetylases (HDACs and that this activity is required for continued proliferation of CGP cells. Suppression of HDAC activity not only blocked the Shh-induced CGP proliferation in primary cell cultures, but also ameliorated aberrant CGP proliferation at the external germinal layer (EGL in a medulloblastoma mouse model. Increased levels of mRNA and protein of several HDAC family members were found in medulloblastoma compared to wild type cerebellum suggesting that HDAC activity is required for the survival/progression of tumor cells. The identification of a role of HDACs in the early steps of medulloblastoma formation suggests there may be a therapeutic potential for HDAC inhibitors in this disease.

  5. Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

    Science.gov (United States)

    Riepe, Felix G; Sippell, Wolfgang G

    2007-12-01

    Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal-recessive disease causing cortisol deficiency, aldosterone deficiency and hyperandrogenism. Diagnosis of 21-OHD is confirmed by steroid analysis in newborn screening or later on. Standard medical treatment consists of oral glucocorticoid and mineralocorticoid administration in order to suppress adrenal androgens and to compensate for adrenal steroid deficiencies. However, available treatment is far from ideal, and not much is known about the long-term outcome in CAH as trials in patients in adulthood or old age are rare. Here we briefly describe the pathophysiology, clinical picture, genetics and epidemiology of 21-OHD. This is followed by a comprehensive review of the recent advances in diagnosis, treatment and outcome. Novel insights have been gained in the fields of newborn screening, specific steroid measurement utilizing mass spectrometry, genetics, glucocorticoid stress dosing, additive medical therapy, prenatal treatment, side-effects of medical treatment, adrenomedullary involvement, metabolic morbidity, fertility and gender identity. However, many issues are still unresolved, and novel questions, which will have to be answered in the future, arise with every new finding.

  6. Clonal rearrangements of immunoglobulin genes and progression to B cell lymphoma in cutaneous lymphoid hyperplasia.

    Science.gov (United States)

    Wood, G S; Ngan, B Y; Tung, R; Hoffman, T E; Abel, E A; Hoppe, R T; Warnke, R A; Cleary, M L; Sklar, J

    1989-07-01

    Cutaneous lymphoid hyperplasia (CLH) is a disorder characterized by the development of one or more skin lesions containing dense lymphoid infiltrates that exhibit the histopathologic features of a benign, reactive process. Nevertheless, some cases have been associated with the subsequent development of clinically overt lymphomas. This suggests that monoclonal populations may exist in some cases of CLH and that these cases may represent a subset more likely to evolve into lymphoma. To determine if such a subset of CLH can be distinguished, Southern blot analysis of DNA was used to study the immunogenotypic features of lesions from 14 patients with clinical, histopathologic, and immunopathologic findings characteristic of CLH. Five cases exhibited detectable clonal rearrangements of immunoglobulin genes. Furthermore, one of these five cases evolved into overt diffuse large cell lymphoma of B cell lineage during a 2-year follow-up of recurrent disease at the original cutaneous site. The immunoglobulin gene rearrangements of this lymphoma were identical to those of the prior CLH lesion. There was no evidence of detectable t(14;18) chromosomal translocations or clonal rearrangements of the beta gene of the T cell receptor in any case. It was concluded that CLH can be divided into two subsets based on the presence or absence of a clonal B cell population, and that overt lymphoma can arise from the former subset and contain the same B cell clone identified in the pre-existent CLH lesion.

  7. Pseudoepitheliomatous hyperplasia mimicking esophageal squamous cell carcinoma in a patient with lye-induced esophageal stricture.

    Science.gov (United States)

    Han, Jang Soo; Lee, Sang Woo; Suh, Kang Heum; Kim, Seung Young; Hyun, Jong Jin; Jung, Sung Woo; Koo, Ja Seol; Yim, Hyung Joon

    2014-06-01

    Pseudoepitheliomatous hyperplasia is a benign condition that may be caused by prolonged inflammation, chronic infection, and/or neoplastic conditions of the mucous membranes or skin. Due to its histological resemblance to well-differentiated squamous cell carcinoma, pseudoepitheliomatous hyperplasia may occasionally be misdiagnosed as squamous cell carcinoma. The importance of pseudoepitheliomatous hyperplasia is that it is a self-limited condition that must be distinguished from squamous cell carcinoma before invasive treatment. We report here on a rare case of esophageal pseudoepitheliomatous hyperplasia in a 67-year-old Korean woman with a lye-induced esophageal stricture. Although esophageal pseudoepitheliomatous hyperplasia is infrequently encountered, pseudoepitheliomatous hyperplasia should be considered in the differential diagnosis of esophageal lesions.

  8. A MOUSE MODEL OF MAMMARY HYPERPLASIA INDUCED BY ORAL HORMONE ADMINISTRATION.

    Science.gov (United States)

    Sun, Li; Guo, Dong-Hui; Liu, Fei; Liu, Qian; Jiang, Ning; Sun, Yun-Feng; Cai, Li-Ping; Zheng, Hong-Xin

    2017-01-01

    Mammary hyperplasia is one of the most common benign breast disorders. Although traditional Chinese medicine has a vast experience in the treatment of mammary hyperplasia, it is not accepted widely due to its unclear mechanism. To address the mechanism, we developed a mouse model of mammary hyperplasia. We gave mice estradiol valerate tablets and progesterone capsules sequentially for one month by intragastric administration. Mice treated by this method had a series of pathological changes which are similar to those detected in women with mammary hyperplasia, including ectopic level of estradiol and progesterone in serum, hyperplasia of mammary glands and increased expression of ERα and PR. This model will facilitate the mechanical study of traditional medicine on mammary hyperplasia.

  9. Histological and immunohistochemical identification of atypical ductal mammary hyperplasia as a preneoplastic marker in dogs.

    Science.gov (United States)

    Ferreira, E; Gobbi, H; Saraiva, B S; Cassali, G D

    2012-03-01

    This study describes and evaluates the morphological and molecular relationship between canine mammary ductal hyperplasias with atypia and canine mammary neoplasias. Ductal hyperplasia was identified in association with malignant neoplasia in 56 of the 115 cases (48,8%), and although ductal hyperplasia without atypia was the type most frequently noted in the cases, most examples of hyperplasia with atypia were associated with mammary tumors. Estrogen receptor, E-cadherin, and cytokeratins 1, 5, 10 and 14 (CK34bE12) expression was quite lower than in normal mammary tissue, and HER2 overexpression was absent in all proliferative cells of ductal hyperplasia. The Ki-67 expression, epidermal growth factor receptor and progesterone receptor expression appeared higher in those hyperplastic lesions analyzed than in normal mammary glands. These findings suggest that canine mammary atypical hyperplasia may play an important role in the process of malignant neoplastic transformation, with molecular alterations that are similar to precursor lesions reported in humans.

  10. Genistein reduces angiogenesis and apoptosis in women with endometrial hyperplasia

    Directory of Open Access Journals (Sweden)

    Granese R

    2015-01-01

    Full Text Available Roberta Granese,1,* Alessandra Bitto,2,* Francesca Polito,2 Onofrio Triolo,1 Domenico Giordano,1 Angelo Santamaria,1 Francesco Squadrito,2 Rosario D’Anna1 1Department of Paediatric, Gynaecological, Microbiological, and Biomedical Sciences, 2Department of Clinical and Experimental Medicine, Section of Pharmacology, University of Messina, Messina, Italy*These authors contributed equally to this workAbstract: Endometrial hyperplasia without cytological atypia is commonly treated with progestins, but other treatments may be available with equivalent efficacy and reduced side effects. Here, we evaluate the effect of genistein aglycone on angiogenesis and apoptosis-related markers women with endometrial hyperplasia. Premenopausals (n=38 with nonatypical endometrial hyperplasia were administered either genistein aglycone (54 mg/day, n=19 or norethisterone acetate (10 mg/day, n=19 on days 16–25 of the menstrual cycle and evaluated for 6 months. Biopsies were taken during hysteroscopy at baseline and 6 months, and symptoms including excessive uterine bleeding were assessed at baseline and 3 and 6 months following recruitment. The expression of angiogenesis (Vegf, epithelial (Egf and Tgfb, and apoptosis-related (Bax, Bcl-2, and Casp-9 molecules, were assessed in uterine biopsies at baseline and after 6 months of therapy. Follicle-stimulating hormone, luteinizing hormone, estradiol, SHBG, and progesterone levels were also measured. After 6 months, 42% of genistein aglycone-administered patients had a significant improvement of symptoms compared to 47% of norethisterone acetate subjects. No significant differences were noted in hormone levels for any treatment. Gene expression revealed a significant reduction in Vegf, Egf, and Tgfb (P<0.05 versus baseline, and an increase in proapoptotic molecules (Bax and Casp-9, with a concomitant decrease in Bcl-2 values (P<0.05 in both groups. These results suggest that genistein aglycone might be useful for the

  11. Rapidly-Growing Nodular Pseudoangiomatous Stromal Hyperplasia of the Breast: Case Report

    OpenAIRE

    Nuket ELİYATKIN; Karasu, Başak; Elif SELEK; Yavuz KEÇECİ; POSTACI, Hakan

    2011-01-01

    Pseudoangiomatous stromal hyperplasia is a benign proliferative lesion of the mammary stroma that rarely presents as a localized mass. Pseudoangiomatous stromal hyperplasia is characterized by a dense, collagenous proliferation of the mammary stroma, associated with capillary-like spaces. Pseudoangiomatous stromal hyperplasia can be mistaken with fibroadenoma on radiological examination or with low-grade angiosarcoma on histological examination. Its main importance is its distinction from ang...

  12. Detection of chromosomal anomalies in endometrial atypical hyperplasia and carcinoma by using fluorescence in situ hybridization.

    Science.gov (United States)

    Qian, Junqi; Weber, Deena; Cochran, Richard; Hossain, Deloar; Bostwick, David G

    2010-04-25

    Endometrial cancer is the most common pelvic gynecological malignancy. The diagnosis of well-differentiated endometrial adenocarcinoma, atypical hyperplasia, and hyperplasia is often challenging. The authors sought to investigate the utility of chromosomal anomalies for the detection of endometrial hyperplasia and carcinoma using multitarget fluorescence in situ hybridization (FISH). Samples were collected by endometrial Tao brush and processed by liquid-based cytological preparation protocol from consecutive cases to include 50 benign, 50 hyperplasia without atypia, 47 atypical hyperplasia, and 53 endometrial cancers. Each was hybridized using fluorescence-labeled DNA probes to chromosomes 1, 8, and 10. The FISH signals were enumerated in 100 cells per case, and the chromosomal anomalies were correlated with pathologic findings, including histologic diagnoses on matched endometrial tissue samples. Numeric chromosomal anomalies were found in 0% (0 of 50) of benign, 20% (10 of 50) of hyperplasia, 74% (35 of 47) of atypical hyperplasia, and 87% (46 of 53) of carcinoma specimens. The mean percentage of cells with chromosomal changes was 55% in cancer specimens, which was significantly higher than that in hyperplasia without atypia (13%, P chromosomal anomaly was gain of chromosome 1. FISH anomalies had an overall sensitivity of 81% and specificity of 90% for the detection of atypical hyperplasia and/or endometrial carcinoma. There was no association with grade of endometrial carcinoma. Multitarget FISH appears to be useful for the differential diagnosis of hyperplasia, atypical hyperplasia, and endometrial adenocarcinoma, with a high level of sensitivity and specificity. It is also a potential tool for the early detection of neoplastic cells in endometrial cytology specimens. Endometrial hyperplasia with FISH-detected chromosomal anomalies may represent a clinically significant subset of cases that warrant close clinical follow-up. (c) 2010 American Cancer Society.

  13. Focal epithelial hyperplasia: report of six cases from Ghana, West Africa.

    Science.gov (United States)

    Nartey, N O; Newman, Merley A; Nyako, E A

    2002-01-01

    Focal epithelial hyperplasia is a proliferative growth of the oral mucosa with distinct clinical and histopathological features. Although focal epithelial hyperplasia is frequently reported in children of American Indian and Eskimo descent, it is rarely seen in Africans. This report presents six new cases of focal epithelial hyperplasia observed in African children. The age of the patients ranged from 4 to 12 years, and all except one were females. Clinical variants, the papillary and the papular types were noted in the same patient. There was spontaneous regression of focal epithelial hyperplasia in four patients during the study period. However, the lesions still persist in two patients three years after the initial presentation.

  14. Simultaneous fingerprint and high-wavenumber fiber-optic Raman spectroscopy enhances real-time in vivo diagnosis of adenomatous polyps during colonoscopy.

    Science.gov (United States)

    Bergholt, Mads Sylvest; Lin, Kan; Wang, Jianfeng; Zheng, Wei; Xu, Hongzhi; Huang, Qingwen; Ren, Jian-Lin; Ho, Khek Yu; Teh, Ming; Srivastava, Supriya; Wong, Benjamin; Yeoh, Khay Guan; Huang, Zhiwei

    2016-04-01

    Colorectal cancer can be prevented if detected early (e.g., precancerous polyps-adenoma). Endoscopic differential diagnosis of hyperplastic polyps (that have little or no risk of malignant transformation) and adenomas (that have prominent malignant latency) remains an unambiguous clinical challenge. Raman spectroscopy is an optical vibrational technique capable of probing biomolecular changes of tissue associated with neoplastic transformation. This work aims to apply a fiber-optic simultaneous fingerprint (FP) and high wavenumber (HW) Raman spectroscopy technique for real-time in vivo assessment of adenomatous polyps during clinical colonoscopy. We have developed a fiber-optic Raman endoscopic technique capable of simultaneously acquiring both the FP (i.e., 800-1800 cm(-1)) and HW (i.e., 2800-3600 cm(-1)) Raman spectra from colorectal tissue subsurface (Raman spectra were acquired from 50 patients with 17 colorectal polyps during clinical colonoscopy. Prominent Raman spectral differences (p Raman endoscopy provides a diagnostic sensitivity of 90.9% and specificity of 83.3% for differentiating adenoma from hyperplastic polyps, which is superior to either the FP or HW Raman technique alone. This study shows that simultaneous FP/HW Raman spectroscopy technique has the potential to be a clinically powerful tool for improving early diagnosis of adenomatous polyps in vivo during colonoscopic examination. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  15. Isolated primary malignant lymphoma arising from the optic chiasm.

    Science.gov (United States)

    Tsutsumi, Keiji; Horiuchi, Tetsuyoshi; Aoyama, Tatsuro; Hongo, Kazuhiro

    2013-12-01

    Isolated primary malignant lymphoma rarely arises from the anterior visual pathway. A 59-year-old previously healthy man presented with progressive, painless, bilateral visual disturbance. Neurological imaging revealed an enhancing mass arising from the optic chiasm. Open biopsy was carried out under monitoring of visual evoked potentials and a histopathological diagnosis of diffuse large B-cell lymphoma was made. As systemic examination did not show any evidence of systemic lymphoma, we concluded that this patient had an isolated primary malignant lymphoma at the anterior visual pathway.

  16. Papillary Carcinoma Arising from the Pyramidal Lobe of the Thyroid

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Hyun Gi; Lee, Sarah; Kim, Eun Kyung; Moon, Hee Jung; Kwak, Jin Young [Severance Hospital, Yonsei University College of Medicine, Seoul (Korea, Republic of)

    2012-03-15

    The authors present a rare case of papillary carcinoma arising from the pyramidal lobe of the thyroid in a 54-year-old woman, who presented with a right submental palpable mass. An ultrasound evaluation depicted a 3 cm mixed echoic mass from the thyroid cartilage level without a focal lesion in the thyroid gland. Surgical specimens obtained during bilateral thyroidectomy confirmed papillary carcinoma of the pyramidal lobe. To the authors' knowledge, this is the first case report to describe papillary carcinoma arising from the pyramidal lobe of the thyroid gland

  17. Polipose gastroduodenal em doentes com polipose adenomatosa familiar Pós-Retocolectomia Gastroduodenal polyposis in patients with familiar adenomatous polyposis after rectocolectomy

    Directory of Open Access Journals (Sweden)

    Raquel Franco Leal

    2007-06-01

    Full Text Available RACIONAL: As manifestações extracólicas, como os pólipos gastroduodenais e o tumor do duodeno, são fatores que influenciam a morbimortalidade dos doentes com polipose adenomatosa familiar no seguimento pós-retocolectomia total. OBJETIVO: Investigar a freqüência destas alterações em doentes com polipose adenomatosa familiar e verificar a eficácia do rastreamento endoscópico. MÉTODO:No período de 1984 a 2005, 62 doentes com polipose adenomatosa familiar pós-retocolectomia foram estudados retrospectivamente pelo Grupo de Coloproctologia da Faculdade de Ciências Médicas da Universidade Estadual de Campinas, SP. O tempo de seguimento médio pós-operatório foi de 81,9 meses, sendo que em 53 (85,5% foi possível analisar a ocorrência de pólipos gastroduodenais. RESULTADOS: Dos 53 doentes em seguimento, 27 (50,9% apresentavam pólipos gastroduodenais. Em 8 (15,4% os pólipos adenomatosos eram gástricos, 14 (27% pólipos duodenais e 5 (9,6% pólipos gástricos e duodenais. Dois doentes (3,8% desenvolveram adenoma duodenal com displasia de alto grau. E outro (1,9%, adenocarcinoma em papila duodenal. CONCLUSÃO: O rastreamento endoscópico, desta forma, é de grande importância e o objetivo é detectar, o mais precocemente possível, os casos de adenocarcinoma duodenal e pólipos gastroduodenais com displasia de alto grau.BACKGROUND: The extra colonic manifestations, like upper gastrointestinal tract polyps and duodenal cancer are disorders that affect long-term morbidity and mortality of patients with familial adenomatous polyposis, after rectocolectomy. AIM: To describe the frequency of those disorders in patients with familial adenomatous polyposis and to review efficacy of upper gastrointestinal endoscopic surveillance. METHODS: Between 1984 and 2005, 62 patients with familial adenomatous polyposis after rectocolectomy, were studied retrospectively, by Coloproctology Group, Medical Sciences Faculty, State University of Campinas

  18. Early surgical treatment in unilateral coronoid hyperplasia and facial asymmetry.

    Science.gov (United States)

    Galiè, Manlio; Consorti, Giuseppe; Tieghi, Riccardo; Denes, Stefano Andrea; Fainardi, Enrico; Schmid, Judith Louisa; Neuschl, Matthias; Clauser, Luigi

    2010-01-01

    Unilateral coronoid hyperplasia is a rare condition in the pediatric age. It may be an unrecognized cause of restricted mouth opening in children.The limited jaw movement is due to the enlargement of the coronoid process of the mandible that impinges on the zygomatic arch during mouth opening. This pathologic condition is still unknown and often misdiagnosed.Although in the past the term osteochondroma has been used to describe most of the unilateral and a few of the bilateral cases, there is no histologic evidence that the process has a neoplastic origin.Microscopic examination of the removed coronoid process has revealed hyperplastic compact bone covered with a thin layer of normal cartilage.There are multiple causes of mandibular hypomobility, each of them associated with different anatomic structures and etiologies, and a large number of cases, mostly bilateral, are idiopathic in nature.Several theories of pathogenesis have been proposed: temporomandibular joint dysfunctions, mandibular hypomobility, temporalis hyperactivity, hormonal stimulus, persistent cartilage growth center, genetic inheritance, and family factors.Unilateral coronoid hyperplasia is usually due to a trauma or a pathologic condition and is associated with facial asymmetry, being more frequently seen in women with histologic chondromatous or neoplastic changes. A thorough clinical history should include information about the onset and progression of pain and other subjective symptoms.In this study, we present a case of unilateral hyperplasia of the coronoid process in a 3 year-old female who, to the best of our knowledge, is the youngest patient so far reported with such anomaly.Our findings support the recommendation that early surgical treatment and aggressive postoperative physical therapy should be taken into account to allow for recovery of morphology and growth function in children.

  19. Hyperplasia vs hypertrophy in tissue regeneration after extensive liver resection.

    Science.gov (United States)

    Marongiu, Fabio; Marongiu, Michela; Contini, Antonella; Serra, Monica; Cadoni, Erika; Murgia, Riccardo; Laconi, Ezio

    2017-03-14

    To address to what extent hypertrophy and hyperplasia contribute to liver mass restoration after major tissue loss. The ability of the liver to regenerate is remarkable on both clinical and biological grounds. Basic mechanisms underlying this process have been intensively investigated. However, it is still debated to what extent hypertrophy and hyperplasia contribute to liver mass restoration after major tissue loss. We addressed this issue using a genetically tagged system. We were able to follow the fate of single transplanted hepatocytes during the regenerative response elicited by 2/3 partial surgical hepatectomy (PH) in rats. Clusters of transplanted cells were 3D reconstructed and their size distribution was evaluated over time after PH. Liver size and liver DNA content were largely recovered 10 d post-PH, as expected (e.g., total DNA/liver/100 g b.w. was 6.37 ± 0.21 before PH and returned to 6.10 ± 0.36 10 d after PH). Data indicated that about 2/3 of the original residual hepatocytes entered S-phase in response to PH. Analysis of cluster size distribution at 24, 48, 96 h and 10 d after PH revealed that about half of the remnant hepatocytes completed at least 2 cell cycles. Average size of hepatocytes increased at 24 h (248.50 μm(2) ± 7.82 μm(2), P = 0.0015), but returned to control values throughout the regenerative process (up to 10 d post-PH, 197.9 μm(2) ± 6.44 μm(2), P = 0.11). A sizeable fraction of the remnant hepatocyte population does not participate actively in tissue mass restoration. Hyperplasia stands as the major mechanism contributing to liver mass restoration after PH, with hypertrophy playing a transient role in the process.

  20. Value of Prophylactic Cervical Thymectomy in Parathyroid Hyperplasia.

    Science.gov (United States)

    Boltz, Melissa M; Zhang, Ning; Zhao, Carrie; Thiruvengadam, Sujan; Siperstein, Allan E; Jin, Judy

    2015-12-01

    In parathyroid hyperplasia (HPT), parathyroid glands within the cervical thymus are a cause for recurrence. As a result of differences in pathophysiology, variable practice patterns exist regarding performing bilateral cervical thymectomy (BCT) in primary hyperplasia versus hyperplasia from renal failure or familial disease. The objective of this study was to capture patients where thymic tissue was found with subtotal parathyroidectomy (PTX) and intended BCT, identify number of thymic supernumerary glands (SNGs), and determine overall cure rate. Retrospective review of patients with four-gland exploration and intended BCT for HPT from 2000 to 2013 was performed. Identification of thymic tissue and SNGs were determined by operative/pathology reports. Univariate analysis identified differences in cure rate for patients undergoing subtotal PTX with or without BCT. Thymic tissue was found in 52 % of 328 primary HPT (19 % unilateral, 33 % bilateral), 77 % of 128 renal HPT (28 % unilateral, 49 % bilateral), and 100 % of familial HPT (24 % unilateral, 76 % bilateral) patients. Nine percent of primary, 18 % of renal, and 10 % of familial HPT patients had SNGs within thymectomy specimens. Cure rates of primary HPT patients with BCT were 99 % compared to 94 % in subtotal PTX alone. Renal HPT cure rates were 94 % with BCT compared to 89 % without BCT. Renal HPT patients benefited most in cure when thymectomy was performed. Although the rate of SNGs found in primary HPT was lower than renal HPT, the cure rate mimicked the pattern in renal disease. Furthermore, the incidences of SNGs in primary and familial HPT were similar. On the basis of these data, we advocate that BCT be considered in primary HPT when thymic tissue is readily identified.

  1. Bronchial Sparganosis mansoni accompanied by abnormal hyperplasia diagnosed by bronchoscopy

    Institute of Scientific and Technical Information of China (English)

    BAI Jing; HE Zhi-yi; LIU Guang-nan; ZHANG Jian-quan; DENG Jing-min; LI Mei-hua; ZHONG Xiao-ning

    2012-01-01

    Pulmonary sparganosis mansoni is rare in humans and bronchial sparganosis mansoni has not been reported.We reported a patient with a soft-tissue mass in the right hilum area on a chest computed tomography (CT) scan that was suspected of being lung cancer.Bronchoscopy identified sparganum larvae.Bronchial sparganosis mansoni accompanied by abnormal hyperplasia was diagnosed by histopathology.We introduced our experience and reviewed the clinical characteristics of three pulmonary sparganosis mansoni cases and three pleural cavity sparganosis mansoni cases that have been reoorted.

  2. [Tonsillectomy versus laser tonsillotomy for tonsillar hyperplasia in children].

    Science.gov (United States)

    Hagedorn, H; Andratschke, M

    2005-04-28

    An appropriate indication for laser tonsillotomy is non-infectious obstructive hyperplasia in children. As a rule, these children suffer from pronounced rhonchopathy, which may be associated with episodes of apnea. Furthermore, disordered articulation and problems with eating have also been described. With increasing age hyperplastic tonsils may repeatedly become inflamed, with the result that tonsillar tissue undergoes changes that further the development of chronic tonsillitis. The indication for tonsillotomy should, however, not be applied in children older than 6 years. In children beyond this age tonsillectomy is recommended, not least due to the fact that the immunological "learning phase" is usually complete around the age of 6.

  3. Oral focal epithelial hyperplasia in a howler monkey (Alouatta fusca).

    Science.gov (United States)

    Sá, L R; DiLoreto, C; Leite, M C; Wakamatsu, A; Santos, R T; Catão-Dias, J L

    2000-09-01

    Oral focal epithelial hyperplasia is a rare and seldom reported disease in animals and humans induced by a papillomavirus. The present report is the first description of this disease in a Neotropical primate, a howler monkey (Alouatta fusca). The diagnosis was based on gross and microscopic findings. The generic papillomavirus antigen was identified by immunohistochemistry and was found not to be related to any human papillomavirus DNA tested by in situ hybridization. This virus is probably a specific papillomavirus of the howler monkey (HMPV).

  4. Focal epithelial hyperplasia: a multifocal oral human papillomavirus infection.

    Science.gov (United States)

    Flaitz, C M

    2000-01-01

    Widespread, slightly elevated and confluent nodules are observed throughout the oral mucosa in a young Hispanic girl. Repeated irritation of the soft tissues from a compromised occlusion is an aggravating factor for the spread of these lesions. A diagnosis of focal epithelial hyperplasia, a human papillomavirus infection, is made following histopathologic diagnosis and viral typing. Recognition of this specific type of warts is important in order to avoid the mistaken identification of condyloma acuminata, which may have significant repercussions in the life of a young child.

  5. Epithelial Focal Hyperplasia or Heck Disease. Case presentation

    Directory of Open Access Journals (Sweden)

    Jorge Luis Valdés González

    2016-12-01

    Full Text Available Epithelial Focal Hyperplasia or Heck disease is an infrequent disease of the oral mucosa. It mainly affects children, without distinguishing sex or ethnic group. It is clinically characterized by the presence of white papules or of similar colour of the oral mucosa, small size, asymptomatic and with the tendency to converge and form papillomatous lesions. This disease has been associated with infection by human papilloma virus and genetic factors. A case of an eight year old girl is presented, who came to the Dermatology consultation at Andino Hospital Chimborazo Ecuador, with lesions in the oral mucosa with clinical and histopathological correspondence with Heck disease.

  6. Predicting the coexistence of an endometrial adenocarcinoma in the presence of atypical complex hyperplasia: immunohistochemical analysis of endometrial samples

    NARCIS (Netherlands)

    Robbe, E.J.; Kuijk, S.M. van; Boed, E.M. de; Smits, L.J.; Wurff, A.A. van der; Kruitwagen, R.F.P.M.; Pijnenborg, J.M.A.

    2012-01-01

    OBJECTIVE: This study aimed to determine whether immunohistochemical markers in complex atypical endometrial hyperplasia could predict the presence of a concurrent endometrial carcinoma. METHODS: Endometrial biopsies of 39 patients with complex atypical hyperplasia were selected retrospectively betw

  7. Sporadic diffuse segmental interstitial cell of Cajal hyperplasia harbouring two gastric gastrointestinal stromal tumours (GIST mimicking hereditary GIST syndromes

    Directory of Open Access Journals (Sweden)

    Mafalda Costa Neves

    2015-01-01

    Conclusion: We describe a diffuse form of sporadic ICC hyperplasia harbouring multifocal GISTs, mimicking diffuse ICC hyperplasia in hereditary GIST syndromes. Detection of somatic c-KIT exon 11 mutation ruled out a hereditary disorder.

  8. Waist circumference is an independent risk factor for prostatic hyperplasia in Taiwanese males

    Directory of Open Access Journals (Sweden)

    Hsu-Han Wang

    2011-10-01

    Conclusions: Study results showed that waist circumference ≥ 90 cm is an independent risk factor of prostatic hyperplasia in Taiwan. Men with abdominal overweight/obesity (WC ≥ 90 cm and BMI > 24 kg/m2 have a twofold risk of developing prostatic hyperplasia.

  9. Maspin expression, subcellular localization and clinicopathological correlation in endometrial hyperplasia and endometrial adenocarcinoma.

    Science.gov (United States)

    Blandamura, Stella; Alessandrini, Lara; Saccardi, Carlo; Giacomelli, Luciano; Fabris, Alberta; Borghero, Angela; Litta, Pietro

    2014-06-01

    Maspin expression in endometrial hyperplasia and endometrial endometrioid adenocarcinomas was assessed and its correlation with p53 and Ki67 expressions and clinical outcome, as well as its potential to distinguish typical from atypical endometrial hyperplasia, were assessed in this study. Histological sections from 114 cases of endometrial endometrioid adenocarcinoma, 75 cases of endometrial hyperplasia (typical and atypical), and 23 normal endometrial tissue samples were examined. The most representative hematoxylin-eosin slides were selected and 2-3 micron-thick sections were cut for immunohistochemical staining with maspin, p53, and Ki67 antibodies. While there was no maspin expression in normal endometrial cells, it was present in 14.5% of the patients with endometrial hyperplasia without atypia. Staining for maspin was positive in atypical hyperplasia and endometrial adenocarcinoma in, respectively, 45% and 49.1% of the cases studied. No statistically significant correlations were found between maspin and Ki-67 antibodies or p53 expression. Our findings showed that maspin expression, which generally correlates with a less aggressive behavior, is significantly higher in atypical hyperplasia and in endometrial endometrioid adenocarcinoma. Maspin positivity in endometrial hyperplasia could be used to identify pseudo-atypical hyperplasia and could be considered a potentially useful prognostic parameter in those cases in which adenocarcinomas are well differentiated.

  10. Endometrial thickness predicts endometrial hyperplasia in patients with polycystic ovary syndrome.

    Science.gov (United States)

    McCormick, Betsy A; Wilburn, Rochelle D; Thomas, Michael A; Williams, Daniel B; Maxwell, Rose; Aubuchon, Mira

    2011-06-30

    Body mass index is predictive of sonographic endometrial stripe thickness, which in turn is predictive of endometrial hyperplasia in patients with polycystic ovary syndrome. For every 1-mm increase in endometrial stripe, the odds ratio of hyperplasia increased by 1.48 (95% confidence interval, 1.04-2.10).

  11. Use of levonorgestrel-releasing intrauterine system in the prevention and treatment of endometrial hyperplasia.

    Science.gov (United States)

    Ewies, Ayman A A; Alfhaily, Fadi

    2012-11-01

    Endometrial hyperplasia is a commonly seen gynecological condition that affects women of all age groups. Whereas hysterectomy is the most preferred treatment option for complex endometrial hyperplasia with atypia, there is no consensus regarding the first-line management of women with hyperplasia without cytological atypia. Oral progestogen therapy was used with some success. Nonetheless, it may be plausible to argue that women with endometrial hyperplasia need continuous treatment and high level of compliance to ensure complete regression, which may not be guaranteed with oral therapy. Observational studies suggested that levonorgestrel-releasing intrauterine system (LNG-IUS) has been successfully used to treat endometrial hyperplasia without cytological atypia and selected cases of atypical endometrial hyperplasia. Furthermore, there is strong evidence from randomized controlled trials that LNG-IUS prevents the development of endometrial hyperplasia in exogenous estrogen users; however, its protective role and safety in tamoxifen-treated breast cancer survivors remain uncertain. This article evaluates the current evidence for the use of LNG-IUS, releasing 20 μg of LNG per day, in the prevention and treatment of endometrial hyperplasia.

  12. Marked left ventricular hypertrophy mimicking hypertrophic cardiomyopathy associated with steroid therapy for congenital adrenal hyperplasia.

    Science.gov (United States)

    Scirè, Giuseppe; D'Anella, Giorgio; Cristofori, Laura; Mazzuca, Valentina; Cianfarani, Stefano

    2007-06-01

    We describe a child treated with high-dose steroid therapy for congenital adrenal hyperplasia who showed marked left ventricular hypertrophy mimicking hypertrophic cardiomyopathy associated with steroid therapy for congenital adrenal hyperplasia. Cardiomyopathy reversed completely when an appropriate steroid therapeutic regimen was established.

  13. The prevalence of endometrial hyperplasia and endometrial cancer in women with polycystic ovary syndrome or hyperandrogenism

    DEFF Research Database (Denmark)

    Holm, Nina Sofie Lillegaard; Glintborg, Dorte; Andersen, Marianne Skovsager

    2012-01-01

    Polycystic ovary syndrome may be associated with an increased risk of endometrial hyperplasia and endometrial cancer, but substantial evidence for this remains to be established. We investigated the prevalence of endometrial hyperplasia and endometrial cancer in a well characterized group of wome...

  14. Freqüência de pólipos em doentes operados de câncer colorretal Frequency of adenomatous polyps after surgical resection of colorectal cancer

    Directory of Open Access Journals (Sweden)

    Beatriz Pinho ROCHA

    2000-01-01

    Full Text Available Introdução - Estudos epidemiológicos e gênicos mostram que os pólipos colônicos do tipo adenoma são lesões pré-neoplásicas. O seguimento de um paciente com câncer colorretal visa principalmente o diagnóstico e retirada de pólipos adenomatosos. Objetivo - Estudar a freqüência do aparecimento de pólipos adenomatosos em doentes com câncer colorretal em acompanhamento clínico após ressecção tumoral. Casuística e Métodos - Foi estudada, retrospectivamente, a freqüência de pólipos do tipo adenoma em 68 pacientes com idade média de 59 anos, submetidos a cirurgia curativa para tratamento de câncer colorretal e a colonoscopia de controle. Resultados - A incidência de pólipos adenomatosos foi de 18%, sendo maior acima de 45 anos (20% e no cólon esquerdo (38%. Em relação ao tipo histológico, 61% eram tubulares, 22% vilosos e 17% túbulo-vilosos. Discussão - Assim como em outros relatos da literatura, a incidência de pólipos foi superior em indivíduos com mais de 45 anos, sendo em mais da metade do tipo tubular. A freqüência de pólipos foi maior nos dois primeiros anos de acompanhamento.Introduction - Epidemiologic and molecular biologic studies have already demonstrated that adenomatous colonic polyps are precancerous diseases. The main indication of the colonoscopy in the surveillance of colorectal cancer treated patients is the diagnosis and resection of adenomatous polyps. Aim - To study the frequency of adenomatous polyps after surgically resection of colorectal cancer. Material and Methods - Sixty eight patients, mean age 59 years old, with total resection of colorectal cancer, submitted to various colonoscopies during the follow up were studied retrospectively. The histological type and the characteristics of the polyp were described. Results - The frequency of polyps was 18%, being higher in the patients with more than 45 years (20%. The site of the polyps was in the left colon in 38% of the patients with

  15. Pseudoepitheliomatous hyperplasia associated with bisphosphonate-related osteonecrosis of the jaw.

    Science.gov (United States)

    Zustin, Jozef; Reske, Dennis; Zrnc, Tomislav A; Heiland, Max; Scheuer, Hanna A; Assaf, Alexandre T; Friedrich, Reinhard E

    2014-01-01

    Bisphosphonate-related osteonecrosis of the jaw (BRONJ) is a well-characterized oral complication of systemic therapy with bisphosphonates. Pseudoepitheliomatous hyperplasia was observed in some of the lesions. Because podoplanin expression has been linked to malignant lesions of the oral mucosa, we aimed to investigate podoplanin expression in the pseudoepitheliomatous hyperplasia. We analyzed archival paraffin- and plastic-embedded specimens from BRONJ using both conventional and immunohistochemical (AE1/AE3, D2-40) staining methods. Eleven out of seventeen BRONJ cases showed pseudoepitheliomatous hyperplasia. All these cases were positive for AE1/AE3 and pseudoepitheliomatous hyperplasia displayed a strong basal and parabasal reaction against podoplanin. The podoplanin expression in pseudoepitheliomatous hyperplasia in BRONJ specimens should not be considered a sign of malignancy. We discuss the current and possible future roles of surgical pathologists in diagnosing morphological changes associated with the development and therapy of BRONJ lesions.

  16. Nitric oxide is less effective at inhibiting neointimal hyperplasia in spontaneously hypertensive rats.

    Science.gov (United States)

    Tsihlis, Nick D; Vavra, Ashley K; Martinez, Janet; Lee, Vanessa R; Kibbe, Melina R

    2013-11-30

    Exogenous administration of nitric oxide (NO) markedly decreases neointimal hyperplasia following arterial injury in several animal models. However, the effect of NO on neointimal hyperplasia in hypertension remains unknown. Here, we employ the spontaneously hypertensive rat (SHR) strain, inbred from Wistar Kyoto (WKY) rats, and the carotid artery balloon injury model to assess the effects of NO on neointimal hyperplasia development. 2weeks after arterial injury, we showed that both rat strains developed similar levels of neointimal hyperplasia, but local administration of NO was less effective at inhibiting neointimal hyperplasia in the SHR compared to WKY rats (58% vs. 79%, Phyperplasia in the SHR than WKY rats. This may be due to increased scavenging of NO in the SHR, leading to diminished bioavailability of NO. These data will help to develop novel NO-based therapies that will be equally effective in both normotensive and hypertensive patient populations.

  17. New approaches to the quantitation of hypertrophy and hyperplasia in hepatomegaly.

    Science.gov (United States)

    Carthew, P; Edwards, R E; Nolan, B M

    1998-12-28

    A histological method utilizing the optical dissector principle has been developed for determining the contribution of hypertrophy and hyperplasia to the hepatomegaly induced by the peroxisome proliferator gemfibrozil. The optical dissector is a technique derived from the 'new stereology' and has been used to estimate the number of hepatocyte nuclear profiles, that are present in a reference volume of tissue. The overall changes due to hypertrophy and hyperplasia in the rat liver after gemfibrozil treatment, did not reach significance, although the zonal hypertrophy change did. This indicated that although there was a 20% increase in liver weight with treatment, the hepatomegaly was caused by a combination of hypertrophy and hyperplasia, neither of which, on its own, was significantly different from the control values. The distinction of hyperplasia from hypertrophy, using a purely histological method, will be useful in assessing whether treatment related sustained hyperplasia is occurring in the liver.

  18. Primary Cutaneous Lymphoma-Associated Pseudoepitheliomatous Hyperplasia Masquerading as Squamous Cell Carcinoma in a Young Adult.

    Science.gov (United States)

    Ansari, Mahsa; Azmoodeh Ardalan, Farid; Najafi, Masoumeh; Goodarzi, Azadeh; Ghanadan, Alireza

    2015-12-01

    Primary cutaneous anaplastic large cell lymphoma is a T-cell malignancy with atypical CD30 positive lymphocytes. Pseudoepitheliomatous hyperplasia is an uncommon finding in primary cutaneous anaplastic large cell lymphoma, and may mimic squamous cell carcinoma as pseudomalignancy. Careful attention of a pathologist to correct diagnosis of pseudoepitheliomatous hyperplasia and its underlying causes will help physicians to avoid inappropriate management. Here, we present a 22-year-old man referred to our hospital with a solitary nodule persistent on his forearm which was diagnosed as squamous cell carcinoma in the first biopsy. The lesion recurred after two months and histopathologic and immunohistochemistry examination revealed anaplastic large cell lymphoma with florid pseudoepitheliomatous hyperplasia which masquerading as well-differentiated squamous cell carcinoma. Diagnosis of pseudoepitheliomatous hyperplasia must guide the pathologist to search for underlying causes, such as primary cutaneous lymphoma. Pseudoepitheliomatous hyperplasia may mimic squamous cell carcinoma and this can result in inappropriate diagnosis and management.

  19. Retroperitoneal unicentric Castleman's disease (giant lymph node hyperplasia: case report

    Directory of Open Access Journals (Sweden)

    Jaques Waisberg

    Full Text Available CONTEXT AND OBJECTIVE: Castleman's disease, or giant lymph node hyperplasia, is a rare disorder of the lymphoid tissue that causes lymph node enlargement. It is considered benign in its localized form, but aggressive in the multicentric type. The definitive diagnosis is based on postoperative pathological findings. The aim here was to describe a case of retroperitoneal unicentric Castleman's disease in the retroperitoneum. CASE REPORT: A 61-year old white male with weight loss and listlessness presented with moderate arterial hypertension and leukopenia. Abdominal tomography revealed a 5 x 4 x 5 cm oval mass of low attenuation, with inner calcification and intense enhancement on intravenous contrast, located in the retroperitoneal region, between the left kidney and the aorta, at the renal hilus. Exploratory laparotomy revealed a non-pulsatile solid oval mass situated in the retroperitoneum, adjacent to the left renal hilus. The retroperitoneal lesion was removed in its entirety. Examination of frozen samples revealed benign lymph node tissue and histopathological examination of the surgical sample revealed hyaline-vascular giant lymph node hyperplasia (Castleman's disease. The patient was discharged on the 12th day without significant events. Two months after the operation, the patient was readmitted with severe cardiac insufficiency, acute renal failure and bronchopneumonia, which progressed to acute respiratory insufficiency, sepsis and death.

  20. [Establishment of prostatic hyperplasia model with castration beagle canines].

    Science.gov (United States)

    Wu, Jian-Hui; Sun, Zu-Yue; Zhu, Yan; Zhong, En-Hong; He, Gui-Lin; Liu, Gui-Ming

    2003-09-01

    To establish a prostatic hyperplasia model with Beagle canines. Twenty-four two-year-old male Beagle canines were divided into treatment and control groups at random and were administrated testosterone propionate (TP) through intramuscular injection two months after castration. Three treatment groups were given 0.8, 2.5 and 7.5 mg/kg TP respectively, and the control was given the same volume of vehicle. Two months later, half of the animals were killed and the serum and prostate were prepared. After the wet weight and volume of prostate were measured, the dihydrotestosterone (DHT) level of serum and prostate were detected with DHT radioimmunoassay (RIA) kit, and paraffine section from canine prostate was stained by the HE methods. Pictures were taken by digital camera under microscope, and all the pictures were analyzed by computer for epithelial cell height and acinar luminal area of prostate with micro image analysis software. The canine prostate volume was measured with ultrasonic diagnosis instrument before castration, at two months after castration and at two months after being given TP. The ultrasonic results showed that the prostate volumes of all the canines were smaller at two months after castration than before castration (P canines became higher with the increase of TP dose. The results of micro image analysis showed that the acinar luminal area of prostate was enlarged, and the epithelial cell height increased with larger dose of TP. It is practicable to establish prostatic hyperplasia model in Beagle canines after two months of TP administration.

  1. Thymus hyperplasia, differential diagnosis in the wheezing infant.

    Science.gov (United States)

    Pedroza Meléndez, A; Larenas-Linnemann, D

    1997-01-01

    Thymus hyperplasia is not a rare condition in infancy, but it is generally considered not to cause any symptoms. We present here a series of 11 children seen at the National Institute of Pediatrics (NIP), Mexico-city, that do have respiratory symptoms secondary to the enlarged gland. Age of onset of the symptoms was median at birth, with age of first visit to the NIP of 6 months. Symptoms were respiratory crisis and various respiratory complaints. Five underwent thoracotomy and resection of the right pulmonary lobe was necessary in one, because of irreversible changes in the lung tissue due to chronic compression. In another patient thymic lobectomy was executed because extrinsic compression of the right upper bronchus resulted in recurrent atelectasia. The five biopsies taken during the intervention showed normal or hyperplastic or involutive thymic tissue without signs of malignancy. The evolution was positive in all the patients. In conclusion thymic hyperplasia must be taken into account in the evaluation of an infant with respiratory symptoms.

  2. ACUPUNCTURE FOR TRERTING 120 CASES OF HYPERPLASIA OF MAMMARY GLANDS

    Institute of Scientific and Technical Information of China (English)

    ZHENG Wei-guo

    2005-01-01

    Objective: To observe the therapeutic effect of acupuncture therapy for 120 cases of hyperplasia of mammary glands. Methods: These patients were classified into liver-qi-stagnation type (n=53), phlegm-coagulation type (n=30) and Thoroughfare-Conception vessel maladjustment type (n=37). Acupoints used were Qimen (期门 LR 14), Wuyi (屋翳 ST 15), Weishu (胃俞 BL 21), etc.. Acupuncture treatment was conducted once daily and 30 treatments constituted one therapeutic course. Results: After 3 courses of treatment, of the 53, 30 and 37 cases of the liver-qi-stagnation, phlegm-coagulation and Thoroughfare-Conception vessel maladjustment types, 43 (81.1%), 24 (80.0%) and 29 (78.4%) were cured, 7 (13.2%), 5 (16.7%) and 5 (13.5%) markedly improved, 3 (5.7%), 1 (3.3%) and 2 (5.4%) improved respectively, and 1 (2.7%) of Thoroughfare-Conception vessel maladjustment type failed. A two-years' follow-up showed that 3 of the cured 92 cases had a relapse, and after 2 more courses of treatment, they were cured again. Conclusion: Acupuncture therapy is effective for the treatment of hyperplasia of mammary glands.

  3. Fermented dairy products modulate Citrobacter rodentium-induced colonic hyperplasia.

    Science.gov (United States)

    Collins, James W; Chervaux, Christian; Raymond, Benoit; Derrien, Muriel; Brazeilles, Rémi; Kosta, Artemis; Chambaud, Isabelle; Crepin, Valerie F; Frankel, Gad

    2014-10-01

    We evaluated the protective effects of fermented dairy products (FDPs) in an infection model, using the mouse pathogen Citrobacter rodentium (CR). Treatment of mice with FDP formulas A, B, and C or a control product did not affect CR colonization, organ specificity, or attaching and effacing lesion formation. Fermented dairy product A (FDP-A), but neither the supernatant from FDP-A nor β-irradiated (IR) FDP-A, caused a significant reduction in colonic crypt hyperplasia and CR-associated pathology. Profiling the gut microbiota revealed that IR-FDP-A promoted higher levels of phylotypes belonging to Alcaligenaceae and a decrease in Lachnospiraceae (Ruminococcus) during CR infection. Conversely, FDP-A prevented a decrease in Ruminococcus and increased Turicibacteraceae (Turicibacter). Importantly, loss of Ruminococcus and Turicibacter has been associated with susceptibility to dextran sodium sulfate-induced colitis. Our results demonstrate that viable bacteria in FDP-A reduced CR-induced colonic crypt hyperplasia and prevented the loss of key bacterial genera that may contribute to disease pathology.

  4. Altered catecholamine receptor affinity in rabbit aortic intimal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    O' Malley, M.K.; Cotecchia, S.; Hagen, P.O. (Duke University Medical Center, Durham, NC (USA))

    1991-08-01

    Intimal thickening is a universal response to endothelial denudation and is also thought to be a precursor of atherosclerosis. The authors have demonstrated selective supersensitivity in arterial intimal hyperplasia to norepinephrine and they now report a possible mechanism for this. Binding studies in rabbit aorta with the selective alpha 1-adrenergic radioligand 125I-HEAT demonstrated that there was no change in receptor density (20 {plus minus} 4 fmole/10(6) cells) in intact vascular smooth muscle cells at either 5 or 14 days after denudation. However, competition studies showed a 2.6-fold increase in alpha 1-adrenergic receptor affinity for norepinephrine in intimal hyperplastic tissue (P less than 0.05). This increased affinity for norepinephrine was associated with a greater increase in 32P-labeled phosphatidylinositol (148% intimal thickening versus 76% control) and phosphatidic acid (151% intimal thickening versus 56% control) following norepinephrine stimulation of free floating rings of intimal hyperplastic aorta. These data suggest that the catecholamine supersensitivity in rabbit aortic intimal hyperplasia is receptor mediated and may be linked to the phosphatidylinositol cycle.

  5. Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Jennifer L. Flint

    2013-01-01

    Full Text Available We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH. The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydroxyprogesterone and markedly elevated 11-deoxycortisol levels at baseline and with ACTH stimulation testing. Results were consistent with 11β-hydroxylase deficiency. He required glucocorticoids and high doses of mineralocorticoids. The marked elevation in 11-deoxycortisol directed our clinical reasoning away from a hypoplastic condition and towards a hyperplasic adrenal condition. Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS locus and the AHC locus on the X chromosome revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. A mouse model has recently been described that displays elevated 11-deoxycorticosterone levels and evidence for hyperplasia of the zona glomerulosa of the adrenal gland. We conclude that DAX1 testing may be considered in patients with laboratory evidence of 11β-hydroxylase deficiency, especially in those with severe salt wasting.

  6. A Rare Case of Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia

    Science.gov (United States)

    Ofikwu, Godwin; Mani, Vishnu R.; Rajabalan, Ajai; Adu, Albert; Ahmed, Leaque; Vega, Dennis

    2015-01-01

    Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare clinical condition with only about 100 cases reported in the literature. It is characterized by primary hyperplasia of pulmonary neuroendocrine cells (PNECs) which are specialized epithelial cells located throughout the entire respiratory tract, from the trachea to the terminal airways. DIPNECH appears in various forms that include diffuse proliferation of scattered neuroendocrine cells, small nodules, or a linear proliferation. It is usually seen in middle-aged, nonsmoking women with symptoms of cough, dyspnea, and wheezing. We present a 45-year-old, nonsmoking woman who presented with symptoms of DIPNECH associated with bilateral pulmonary nodules and left hilar adenopathy. Of interest, DIPNECH in our patient was associated with metastatic pulmonary carcinoids, papillary carcinoma of the left breast, oncocytoma and angiomyolipoma of her left kidney, and cortical nodules suggestive of tuberous sclerosis. She had video assisted thoracoscopic surgery (VATS), modified radical mastectomy with reconstruction, and radical nephrectomy. She is currently symptom-free most of the time with over two years of follow-up. PMID:26609460

  7. A Rare Case of Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia

    Directory of Open Access Journals (Sweden)

    Godwin Ofikwu

    2015-01-01

    Full Text Available Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH is a rare clinical condition with only about 100 cases reported in the literature. It is characterized by primary hyperplasia of pulmonary neuroendocrine cells (PNECs which are specialized epithelial cells located throughout the entire respiratory tract, from the trachea to the terminal airways. DIPNECH appears in various forms that include diffuse proliferation of scattered neuroendocrine cells, small nodules, or a linear proliferation. It is usually seen in middle-aged, nonsmoking women with symptoms of cough, dyspnea, and wheezing. We present a 45-year-old, nonsmoking woman who presented with symptoms of DIPNECH associated with bilateral pulmonary nodules and left hilar adenopathy. Of interest, DIPNECH in our patient was associated with metastatic pulmonary carcinoids, papillary carcinoma of the left breast, oncocytoma and angiomyolipoma of her left kidney, and cortical nodules suggestive of tuberous sclerosis. She had video assisted thoracoscopic surgery (VATS, modified radical mastectomy with reconstruction, and radical nephrectomy. She is currently symptom-free most of the time with over two years of follow-up.

  8. Treatment of 41 Cases of Prostate Hyperplasia by Elongated Needle

    Institute of Scientific and Technical Information of China (English)

    WANG Zi-chen; WANG Zhan-ping; ZHANG Bing

    2006-01-01

    观察针药结合治疗前列腺增生症的疗效.采用芒针深刺秩边、中极穴和自备中药保留灌肠后,选曲骨配中、下穴接中药离子导入仪.41例患者总有效率为92.7%.芒针与中药离子导入能缓解前列腺增生的临床症状,提高患者的生活质量.%To observe the therapeutic effect of acupuncture plus medicament in the treatment of prostatic hyperplasia, Zhibian (BL 54) and Zhongji (CV 3) were deeply punctured with elongated needles and enema was applied with self-prepared medicinal herbs. Then Qugu (CV2),Zhongliao(BL 33) and Xialiao(BL 34) were selected and connected with a herbal Ion Introduction Apparatus. The total effective rate was 92.4% in 41 cases. Elongated needle and herbal ion introduction can relieve the clinical symptoms of prostatic hyperplasia and improve the patients' life quality.

  9. Cerebral Arteriovenous Malformation Flow Is Associated With Venous Intimal Hyperplasia.

    Science.gov (United States)

    Shakur, Sophia F; Hussein, Ahmed E; Amin-Hanjani, Sepideh; Valyi-Nagy, Tibor; Charbel, Fady T; Alaraj, Ali

    2017-04-01

    The pathogenesis of venous intimal hyperplasia and venous outflow stenosis associated with cerebral arteriovenous malformation (AVM) draining veins is poorly understood. We sought to determine the relationship between maximum vein wall thickness and AVM flow. Patients who underwent AVM surgical resection and had flow measured before treatment using quantitative magnetic resonance angiography were retrospectively reviewed. Specimens were mounted on slides and stained with elastin special stain. Perinidal veins were identified, and maximum wall thickness was measured from digitized images. Relationship between maximum vein wall thickness and AVM flow was assessed. Twenty-eight patients were included. Spearman correlation revealed a statistically significant relationship between maximum vein wall thickness and total AVM flow (ρ=+0.51; P=0.006), AVM flow per draining vein (ρ=+0.41; P=0.03), and mean intranidal vessel diameter (ρ=+0.39; P=0.04). Maximum vein wall thickness increases with higher total AVM flow and AVM flow per draining vein. This finding implicates chronically high AVM inflow in venous intimal hyperplasia. © 2017 American Heart Association, Inc.

  10. A Rare Nasopharyngeal Teratoma Arising From the Vomer.

    Science.gov (United States)

    Pang, Xiaoxiao; Kwon, Hyuk-Jae; Shi, Bing; Li, Chenghao

    2016-03-01

    Teratomas are rare germ cell neoplasms derived from the 3 germinal layers (ectoderm, mesoderm, and endoderm). Nasopharyngeal teratoma is a very rare teratoma arising anywhere from the oronasal cavity, regarded as an expanding, avity filling lesion, with a high mortality rate because of severe airway obstruction, especially in the neonatal period and make up only 2% of all teratomas. The authors present a case of an infant girl with a single, finger-like, hairy teratoma arising from the vomer and protruding from the mouth with bilateral complete cleft palate, cleft lip, and cleft alveolus. Complete intraoral resection of the teratoma and cleft lip repair was conducted simultaneously. Reconstruction of the cleft palate was performed at a later stage. Recurrence occurred 9 months after surgery and extended complete surgical excision was performed after recurrence, with no recurrence observed again to date. Histopathologic examination confirmed the diagnosis of congenital mature teratoma.

  11. Acute Lymphoblastic Leukemia Arising in CALR Mutated Essential Thrombocythemia

    Directory of Open Access Journals (Sweden)

    Stephen E. Langabeer

    2016-01-01

    Full Text Available The development of acute lymphoblastic leukemia in an existing myeloproliferative neoplasm is rare with historical cases unable to differentiate between concomitant malignancies or leukemic transformation. Molecular studies of coexisting JAK2 V617F-positive myeloproliferative neoplasms and mature B cell malignancies indicate distinct disease entities arising in myeloid and lymphoid committed hematopoietic progenitor cells, respectively. Mutations of CALR in essential thrombocythemia appear to be associated with a distinct phenotype and a lower risk of thrombosis yet their impact on disease progression is less well defined. The as yet undescribed scenario of pro-B cell acute lymphoblastic leukemia arising in CALR mutated essential thrombocythemia is presented. Intensive treatment for the leukemia allowed for expansion of the original CALR mutated clone. Whether CALR mutations in myeloproliferative neoplasms predispose to the acquisition of additional malignancies, particularly lymphoproliferative disorders, is not yet known.

  12. Endometrial Intraepithelial Neoplasia (EIN) in endometrial biopsy specimens categorized by the 1994 World Health Organization classification for endometrial hyperplasia.

    Science.gov (United States)

    Li, Xiao-Chao; Song, Wen-Jing

    2013-01-01

    Our study is to determine the presence of endometrial intraepithelial neoplasia (EIN) in endometrial biopsy specimens classified by the 1994 World Health Organization (WHO) criteria for endometrial hyperplasia. Endometrial biopsy specimens that were stained with hematoxylin and eosin (HE) were examined and categorized by the WHO 1994 criteria and for the presence of EIN as defined by the International Endometrial Collaborative Group. β-catenin expression was examined by immunohistochemistry. A total of 474 cases of HE stained endometrial biopsy tissues were reviewed. There were 379 cases of simple endometrial hyperplasia, 16 with simple atypical endometrial hyperplasia, 48 with complex endometrial hyperplasia, and 31 with complex atypical endometrial hyperplasia. Among the 474 endometrial hyperplasia cases, there were 46 (9.7%) that were classified as EIN. Of these 46 cases, 11(2.9%) were classified as simple endometrial hyperplasia, 1 (6.3%) as simple atypical endometrial hyperplasia, 6 (12.5%) as complex endometrial hyperplasia, and 28 (90.3%) as complex atypical endometrial hyperplasia. EIN was associated with a higher rate of β-catenin positivity than endometrium classified as benign hyperplasia (72% vs. 22.5%, respectively, P hyperplasia, high β-catenin expression was noted in the cell membranes, whereas in EIN and endometrial adenocarcinoma high expression was noted in the cytoplasm. In conclusion, EIN is more accurate than the WHO classification for the diagnosis of precancerous lesions of the endometrium.

  13. Hepatic artery pseudoaneurysms arising from within a hepatocellular carcinoma

    Science.gov (United States)

    Chingkoe, C M; Chang, S D; Legiehn, G M; Weiss, A

    2010-01-01

    We report a case of a 70-year-old man with a large hepatocellular carcinoma (HCC) containing two pseudoaneurysms measuring up to 2 cm in diameter. The pseudoaneurysms and part of the HCC were supplied by branches from the middle colic artery, which arises from the superior mesenteric artery. This complex arterial vasculature was visualised on CT and confirmed with conventional angiography. PMID:21088082

  14. Solitary osteochondroma arising from cervical spina bifida occulta.

    Science.gov (United States)

    Ofluoglu, Ali Ender; Abdallah, Anas; Gokcedag, Akin

    2013-01-01

    Solitary osteochondromas are common benign long bone tumors originating from cartilage. They may produce a wide variety of symptoms and complications depending on their spinal location. These may include compressive myelopathy, nerve root compression, pathologic fracture and malignant degeneration, or in some cases only pain. Solitary cervical spine osteochondromas have been reported mostly in the neural arch or vertebral body. This report describes a patient presenting with neck pain, with a benign osteochondroma arising in the right bifid C5 lamina.

  15. Multicentric glioblastoma arising in two unusual sites : cerebellum and thalamus

    OpenAIRE

    Cambruzzi, Eduardo; Pêgas,Karla Lais; Simão,Mariana Fernandez; Stüker, Guilherme

    2013-01-01

    Multicentric glioblastomas (MGBM) arising in infra/supratentorial regions are uncommon lesions. The authors report a case of MGBM in a 61 year-old female patient, who presented a sudden onset of left hemiplegia. The magnetic resonance imaging (MRI) showed two expansive large lesions affecting cerebellum and thalamus, with strong contrast enhancement. The patient underwent resection of the cerebellar lesion. Microscopy revealed a high grade glial neoplasm exhibiting high mitotic index, areas o...

  16. Apocrine carcinoma arising in a complex fibroadenoma: a case report.

    Science.gov (United States)

    Mele, Marco; Vahl, Pernille; Funder, Jonas Amstrup; Sorensen, Anne Schmidt; Jensen, Vibeke

    2014-01-01

    A carcinoma arising in a fibroadenoma is a rare event, which often entails a diagnostic challenge. The most common type is the lobular carcinoma and secondary a ductal carcinoma. We present an extremely rare case of malignant development of an invasive apocrine carcinoma in a complex fibroadenoma and underline the importance for clinicians to recognize the possibility of benign and malignant co-existence especially in older women.

  17. Poorly Differentiated Squamous Cell Carcinoma Arising in Tattooed Skin

    OpenAIRE

    Deba P. Sarma; Dentlinger, Renee B.; Forystek, Amanda M.; Todd Stevens; Christopher Huerter

    2011-01-01

    Introduction. Tattoos have increasingly become accepted by mainstream Western society. As a result, the incidence of tattoo-associated dermatoses is on the rise. The presence of a poorly differentiated squamous cell carcinoma in an old tattooed skin is of interest as it has not been previously documented. Case Presentation. A 79-year-old white homeless man of European descent presented to the dermatology clinic with a painless raised nodule on his left forearm arising in a tattooed area. A...

  18. Penile squamous cell carcinoma arising from balanitis xerotica obliterans.

    Science.gov (United States)

    Pride, H B; Miller, O F; Tyler, W B

    1993-09-01

    Squamous cell carcinoma arising from balanitis xerotica obliterans is rarely reported. We describe an 83-year-old man in whom metastatic penile squamous cell carcinoma developed after 18 years of observation for balanitis xerotica obliterans. It is important to recognize the possibility of this uncommon complication of balanitis xerotica obliterans, because survival of patients with squamous cell carcinoma depends on early diagnosis and treatment.

  19. Low-grade ductal carcinoma in situ and invasive mammary carcinoma with columnar cell morphology arising in a complex fibroadenoma in continuity with columnar cell change and flat epithelial atypia.

    Science.gov (United States)

    Petersson, Fredrik; Tan, Puay Hoon; Putti, Thomas Choudary

    2010-10-01

    We describe the clinicopathologic features of a small low-grade invasive mammary carcinoma with cytomorphological columnar cell features arising in a complex fibroadenoma that in addition to sclerosing adenosis, apocrine metaplasia, and usual ductal hyperplasia also displayed columnar cell change with flat epithelial atypia and low-grade ductal carcinoma in situ merging with the invasive carcinoma. There were strong cytomorphological similarities between the invasive carcinoma and the low-grade ductal carcinoma in situ, which also showed significant overlap in the immunohistochemical findings.

  20. FAMILIAL ADENOMATOUS POLYPOSIS

    Institute of Scientific and Technical Information of China (English)

    XU Ning; DING Yan-qing; XU Li

    1999-01-01

    @@ Clinical History A 41-year-old female was admitted into Nan Fang Hospital for severe abdominal pain with bloody-mucoid stool for a month. The symptoms started a year ago without obvious causes and she did not have any systemic treatment.The patient felt fatigue and loss of weight for the last three months and increased frequency of bloody-mucoid discharge from 2-4 times/day to 10 times/day for the last month. Two weeks ago the patient had a proctoscope with biopsy in Pan Yu people's Hospital. The pathological diagnosis was rectal villous adenoma with focal malignant changes. Rectal examination in this hospital found a rectal mass, 4 cm from the anus, longitudinal growing and occupying a quarter of the circumference. Further colonofiberscope diagnosis was familial polyposis of colon.Family history showed that her father died of lung cancer,her mother died of colonic cancer and her brother and sister were healthy. A total colo-rectectomy with ileostomy was performed.

  1. Familial Adenomatous Polyposis

    Science.gov (United States)

    ... have a de novo (new) mutation in the APC gene. Most colorectal cancer is sporadic, meaning it occurs by chance, and ... a mutation in the APC gene. If an APC gene mutation is found, other family members may be ... tumor ...

  2. Familial adenomatous polyposis

    DEFF Research Database (Denmark)

    Bülow, Steffen

    1989-01-01

    anastomosis, but restorative proctocolectomy may be considered in selected cases. Polyposis patients treated with ileorectal anastomosis should be followed for life, with regular proctosigmoidoscopy and destruction of new adenomas. Furthermore, regular gastroduodenoscopy should be carried out because...

  3. A rare case of asymptomatic radioiodine-avid renal and brain metastases 20 years after hemi-thyroidectomy for adenomatous goiter.

    Science.gov (United States)

    Santhosh, Sampath; Bhattacharya, Anish; Verma, Roshan Kumar; Lal, Anupam; Mittal, Bhagwant Rai

    2016-01-01

    A 65-year-old patient, with a history of left hemi-thyroidectomy for adenomatous goiter 20 years previously, was found to have pulmonary lesions on chest X-ray, a brain lesion on computerized tomography (CT), and elevated serum thyroglobulin (Tg). While completion thyroidectomy revealed that no pathological evidence of thyroid malignancy, radioiodine-avid pulmonary, brain, and renal and bone lesions were identified on diagnostic as well as posttherapy whole body planar scintigraphy and single photon emission computed tomography-CT. Subsequent ultrasonography-guided biopsy of a renal nodule showed thyroid follicular cells. This case suggests that metastatic differentiated thyroid carcinoma should be suspected in asymptomatic patients with incidentally detected lesions, raised serum Tg, and history of thyroid lesions.

  4. [A Case of Familial Adenomatous Polyposis with a Desmoid Tumor Probably Communicating to the Intestinal Lumen That Was Successfully Treated with Non-Surgical Therapy].

    Science.gov (United States)

    Ito, Tetsuya; Chika, Noriyasu; Yamamoto, Azusa; Ogura, Toshiro; Amano, Kunihiko; Ishiguro, Toru; Fukuchi, Minoru; Kumagai, Youichi; Ishibashi, Keiichiro; Eguchi, Hidetaka; Okazaki, Yasushi; Mochiki, Erito; Ishida, Hideyuki

    2016-11-01

    A 44-year-old man with familial adenomatous polyposis underwent laparoscopic-assistedtotal proctocolectomy with ilealpouch anal anastomosis(IPAA). Computed tomography conducted 21 months after IPAA demonstrated bilateral hydronephrosis andan intra-abdominal mass with a maximal diameter of 22 cm, leading to a diagnosis of stage IV desmoid disease, according to the classification by Church and associates. Six courses of combination chemotherapy with doxorubicin plus dacarbazine were administered. Computed tomography after chemotherapy demonstrated marked shrinkage of the desmoidtumor with intraabdominal air andfluidcollection extending just below the skin of the ileostomy closure site. Stoollike fluidoverflowedspontaneously through the site of the ileostomy closure andthe abscess cavity was successfully drained. The patient was discharged 30 days after the start of drainage. The patient is doing well 10 months after the drainage without regrowth of the desmoid tumor, even though a cavity-like lesion encapsulatedby a thick wall remains.

  5. Polycystic ovary syndrome and endometrial hyperplasia: an overview of the role of bariatric surgery in female fertility.

    Science.gov (United States)

    Charalampakis, Vasileios; Tahrani, Abd A; Helmy, Ahmed; Gupta, Janesh K; Singhal, Rishi

    2016-12-01

    One of the most effective methods to tackle obesity and its related comorbidities is bariatric surgery. Polycystic ovary syndrome (PCOS) and endometrial hyperplasia (EH), which are associated with increased risk of endometrial carcinoma, have been identified as potentially new indications for bariatric surgery. PCOS is the most common endocrine disorder in women in the reproductive age and is associated with several components of the metabolic syndrome such as obesity, insulin resistance and hypertension. EH is a pre-cancerous condition which arises in the presence of chronic exposure to estrogen unopposed by progesterone such as both in PCOS and obesity. The main bariatric procedures are Roux-en-Y gastric bypass, laparoscopic sleeve gastrectomy and laparoscopic adjustable gastric banding. These procedures are well established and when correctly selected and performed by experienced bariatric surgeons, they can achieve significant weight loss and remission of obesity related co-morbidities. Studies have shown that bariatric surgery can play an important role in the management of patients with PCOS and improve fertility. Similarly, bariatric surgery has a positive effect on endometrial hyperplasia, making surgically induced weight loss a potentially attractive option for endometrial cancer prevention and treatment. Obesity has an adverse impact on spontaneous pregnancy, assisted reproduction methods and feto-maternal outcomes. After bariatric surgery obese women with subfertility can achieve spontaneous pregnancy. However, while bariatric surgery reduces the risk of pre-eclampsia and gestational diabetes, there is an increased risk of small for gestational age and possible increased risk of stillborn or neonatal death. In this article we will review the evidence regarding the use of bariatric surgery as a treatment modality in patients with PCOS and EH. We also provide an overview of the common bariatric procedures. Copyright © 2016 Elsevier Ireland Ltd. All rights

  6. Male genitoplasty for 46 XX congenital adrenal hyperplasia patients presenting late and reared as males

    Science.gov (United States)

    Sharma, Shilpa; Gupta, Devendra K.

    2012-01-01

    Aim: To evaluate the clinical profile and management of 46 XX Congenital Adrenal Hyperplasia (CAH) patients presenting with severe virilization and assigned a male gender. Materials and Methods: Of 173 children diagnosed with CAH at the Pediatric Intersex Clinic since 1980, seven children with CAH presented late with severe virilization and were reared as males. All of them were assigned the male sex with removal of the female adnexa. Six were treated with male genitoplasty. Appropriate hormonal supplementation was offered after puberty. Results: The mean age at presentation was 14.2 years (7 – 21). Six patients had presented after puberty, only one at seven years of age. Staged male genitoplasty comprising of chordee correction, male urethroplasty, and bilateral testicular prosthesis was performed. The female adnexa (uterus, ovaries, most of the upper vagina, and the fallopian tubes) were removed. The mental makeup was masculine in six and bigender in one. Bilateral mastectomy was performed at puberty in all. Hormonal treatment comprised of glucocorticoids and testosterone. Six patients were comfortable with the outcome of the masculinizing genitoplasty. One had a short-sized phallus. One had repeated attacks of urinary tract infection arising from the retained lower vaginal pouch. Social adjustments were good in all, except in one who had a bigender mental makeup. Conclusion: CAH patients with severe virilization presenting late and reared as males are extremely rare. However, the assigned gender can be retained adequately as males, meeting the socioeconomic compulsions of the society. The results are satisfactory following appropriate surgical procedures and hormonal supplementation. PMID:23226638

  7. Male genitoplasty for 46 XX congenital adrenal hyperplasia patients presenting late and reared as males

    Directory of Open Access Journals (Sweden)

    Shilpa Sharma

    2012-01-01

    Full Text Available Aim: To evaluate the clinical profile and management of 46 XX Congenital Adrenal Hyperplasia (CAH patients presenting with severe virilization and assigned a male gender. Materials and Methods: Of 173 children diagnosed with CAH at the Pediatric Intersex Clinic since 1980, seven children with CAH presented late with severe virilization and were reared as males. All of them were assigned the male sex with removal of the female adnexa. Six were treated with male genitoplasty. Appropriate hormonal supplementation was offered after puberty. Results: The mean age at presentation was 14.2 years (7 - 21. Six patients had presented after puberty, only one at seven years of age. Staged male genitoplasty comprising of chordee correction, male urethroplasty, and bilateral testicular prosthesis was performed. The female adnexa (uterus, ovaries, most of the upper vagina, and the fallopian tubes were removed. The mental makeup was masculine in six and bigender in one. Bilateral mastectomy was performed at puberty in all. Hormonal treatment comprised of glucocorticoids and testosterone. Six patients were comfortable with the outcome of the masculinizing genitoplasty. One had a short-sized phallus. One had repeated attacks of urinary tract infection arising from the retained lower vaginal pouch. Social adjustments were good in all, except in one who had a bigender mental makeup. Conclusion: CAH patients with severe virilization presenting late and reared as males are extremely rare. However, the assigned gender can be retained adequately as males, meeting the socioeconomic compulsions of the society. The results are satisfactory following appropriate surgical procedures and hormonal supplementation.

  8. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

    Science.gov (United States)

    Tong, Yu K.; Yuen, Tony; Jiang, Peiyong; Pina, Christian; Chan, K. C. Allen; Khattab, Ahmed; Liao, Gary J. W.; Yau, Mabel; Kim, Se-Min; Chiu, Rossa W. K.; Sun, Li; Zaidi, Mone

    2014-01-01

    Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. This means that mothers who want to undergo prenatal dexamethasone treatment will be unnecessarily treating seven of eight fetuses (males and three of four unaffected females), emphasizing the desirability of earlier genetic diagnosis in utero. Objective: The objective of the study was to develop a noninvasive method for early prenatal diagnosis of fetuses at risk for CAH. Patients: Fourteen families, each with a proband affected by phenotypically classical CAH, were recruited. Design: Cell-free fetal DNA was obtained from 3.6 mL of maternal plasma. Using hybridization probes designed to capture a 6-Mb region flanking CYP21A2, targeted massively parallel sequencing (MPS) was performed to analyze genomic DNA samples from parents and proband to determine parental haplotypes. Plasma DNA from pregnant mothers also underwent targeted MPS to deduce fetal inheritance of parental haplotypes. Results: In all 14 families, the fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation. Conclusions: MPS on 3.6 mL plasma from pregnant mothers could potentially provide the diagnosis of CAH, noninvasively, before the ninth week of gestation. Only affected female fetuses will thus be treated. Our strategy represents a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders. PMID:24606108

  9. Focal nodular hyperplasia of the liver in longterm survivors of neuroblastoma

    Energy Technology Data Exchange (ETDEWEB)

    Benz-Bohm, Gabriele, E-mail: g.benz-bohm@t-online.d [Division of Pediatric Radiology, A. Gossmann (formerly), Department of Radiology, University of Cologne, Kerpenerstr. 62, 50924 Koeln (Germany); Hero, Barbara, E-mail: barbara.hero@uk-koeln.d [Department of Pediatrics, Division of Pediatric Oncology and Hematology, University of Cologne, Kerpenerstr. 62, 50924 Koeln (Germany); Gossmann, Axel, E-mail: GossmannA@kliniken-koeln.d [Department of Radiology, Cologne City Hospitals, Ostmerheimer Strasse 200, 51109 Koeln (Germany); Simon, Thorsten, E-mail: thorsten.simon@uk-koeln.d [Department of Pediatrics, Division of Pediatric Oncology and Hematology, University of Cologne, Kerpenerstr. 62, 50924 Koeln (Germany); Koerber, Friederike, E-mail: friederike.koerber@uk-koeln.d [Division of Pediatric Radiology, A. Gossmann (formerly), Department of Radiology, University of Cologne, Kerpenerstr. 62, 50924 Koeln (Germany); Berthold, Frank, E-mail: frank.berthold@uk-koeln.d [Department of Pediatrics, Division of Pediatric Oncology and Hematology, University of Cologne, Kerpenerstr. 62, 50924 Koeln (Germany)

    2010-06-15

    Objectives: Focal nodular hyperplasia of the liver is a tumor-like lesion, uncommon in children, but it has recently been more frequently observed in children treated for malignant diseases, especially neuroblastoma. The aetiology is unclear, the pathogenesis remains controversial. Focal nodular hyperplasia of the liver is suspected to be a sequela of tumor therapy. Methods: Besides the clinical data we evaluated the imaging modalities needed to diagnose focal nodular hyperplasia of the liver in children with neuroblastoma who have been followed in our institution for more than 5 years. Results: Out of 60 children six developed focal nodular hyperplasia at a median time of 10.5 years after diagnosis of neuroblastoma and 9.4 years after the end of treatment. The diagnosis of focal nodular hyperplasia was based on imaging criteria which are variable in ultrasonography and specific in MRI. Only one child underwent surgical biopsies to rule out liver metastases. Conclusions: Longterm survivors of neuroblastoma are at risk of developing focal nodular hyperplasia, especially if they underwent toxic chemotherapy and/or radiotherapy to the liver during initial treatment. The recommended diagnostic imaging tools are ultrasonography for detecting liver lesions and MRI for confirming and characterizing these lesions as focal nodular hyperplasia.

  10. Pulmonary neuroendocrine cell hyperplasia: identification, diagnostic criteria and incidence in untreated ageing rats of different strains.

    Science.gov (United States)

    Haworth, Richard; Woodfine, Jennie; McCawley, Sean; Pilling, Andrew M; Lewis, David J; Williams, Tom C

    2007-08-01

    Pulmonary Neuroendocrine Cells (PNEC) are found as clusters called neuroepithelial bodies (NEB) or as single cells scattered in the respiratory epithelium. Pulmonary neuroendocrine cell hyperplasia is recorded in humans and experimentally manipulated rodents. The objectives of this work were to identify the optimal immunohistochemical markers for PNEC in the rat for use on paraffin-embedded, formalin-fixed material and to provide the first comparative incidence of PNEC hyperplasia in untreated 2-year-old rats of different strains. Calcitonin-gene related peptide (CGRP) and protein G product 9.5 (PGP9.5) antibodies identified PNEC consistently and selectively. In contrast, PNEC did not express chromogranin-A or S-100. PNEC hyperplasia was defined as foci of PNEC with greater than 40 nuclei, excluding overlying respiratory epithelium and submucosal PNEC. PNEC hyperplasia was observed at low incidence (0-7%) in untreated 2-year-old Sprague-Dawley, Han Wistar and Wistar rats but not Fischer 344 rats. This is the first report of spontaneous PNEC hyperplasia in rats. The cause of this hyperplasia is unknown, but experimental models that induce PNEC hyperplasia by causing bronchiolar cell injury are discussed. PNEC neoplasia in the rat is unreported in the literature and was not observed in animals examined in this study.

  11. Comparison of computed tomography features between follicular neoplasm and nodular hyperplasia.

    Science.gov (United States)

    Lee, Kwang Hwi; Kim, Dong Wook; Baek, Jin Wook; Lee, Yoo Jin; Choo, Hye Jung; Cho, Young Jun; Lee, Sun Joo; Park, Young Mi; Jung, Soo Jin; Baek, Hye Jin

    2016-10-03

    To date, appropriate management for Bethesda IV thyroid nodules is controversial, and no specific features of follicular neoplasm and nodular hyperplasia on ultrasonography, computed tomography (CT), or other imaging modalities have been reported. This study aimed to compare CT features of follicular neoplasm and nodular hyperplasia and to determine the specific CT features that could be used to distinguish follicular neoplasm from nodular hyperplasia. In 122 patients who underwent preoperative CT of the neck and thyroid surgery, 59 follicular neoplasms and 65 nodular hyperplasias were included. In each case, non-enhanced and contrast-enhanced CT images were obtained, and a single radiologist retrospectively analyzed CT images, including degree and pattern of attenuation, nodular configuration, margin, shape, pattern of calcification, degree and pattern of nodular enhancement, and CT halo sign. A univariate and multivariate logistic regression analyses were used to evaluate the predictive power of each variable and CT features with a high predictive power, respectively. According to the univariate analysis, iso-attenuation, intraglandular configuration, smooth margin, ovoid shape, decreased enhancement, and absence of CT halo sign were more frequently observed in nodular hyperplasia (p hyperplasia (p hyperplasia. Rretrospectively registered.

  12. Rebound adenoid hyperplasia after chemotherapy in pediatric patients with head and neck lymphoma: MR imaging findings.

    Science.gov (United States)

    Kato, Hiroki; Matsuo, Masayuki; Ozeki, Michio; Fukao, Toshiyuki

    2016-09-01

    To assess MR imaging findings of rebound adenoid hyperplasia after chemotherapy in pediatric patients with head and neck lymphoma. Eight pediatric patients with head and neck lymphoma treated with chemotherapy alone or concurrent chemoradiotherapy were included. All patients underwent pre-therapeutic assessment and post-therapeutic follow-up by MR imaging. The maximum thickness of the adenoid was assessed on transverse T2-weighted images. Rebound adenoid hyperplasia was defined as more than half of the pre-therapeutic thickness after severe atrophy. The pre-therapeutic maximum thickness of the adenoid ranged from 10 to 18 mm (mean, 15 mm). In all patients, the thickness of the adenoid dramatically decreased (mean 1 mm) within 1 year after the cessation of chemotherapy. On follow-up MR imaging, rebound adenoid hyperplasia was observed in five patients (63 %). Re-atrophy following rebound adenoid hyperplasia was observed in two patients (25 %), and no re-atrophy was observed in three patients (37 %). Rebound adenoid hyperplasia was not observed in three patients (37 %) who were in their late teens, and who had been treated with concurrent chemoradiotherapy. Rebound adenoid hyperplasia was often observed after chemotherapy in pediatric patients with lymphoma. MR imaging was useful for the assessment of rebound adenoid hyperplasia.

  13. Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X

    OpenAIRE

    Orestis Ioannidis; George Paraskevas; Stavros Chatzopoulos; Anastasios Kotronis; Nikolaos Papadimitriou; Athina Konstantara; Apostolos Makrantonakis; Emmanouil Kakoutis

    2012-01-01

    Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC) gene. We present the physical history, clinical presentation,...

  14. [Carcinoma arising within mammary fibroadenomas. A study of six patients].

    Science.gov (United States)

    Tissier, F; De Roquancourt, A; Astier, B; Espie, M; Clot, P; Marty, M; Janin, A

    2000-03-01

    We report six cases of carcinomas arising within fibroadenomas. Fibroadenoma is a benign neoplasm occurring in young women. Its association with carcinomas is unfrequent and particularly reported in older women. Few data are available on the histologic features of fibroadenomas harboring malignant lesions. In this study, most cases of fibroadenomas showed cysts, sclerosing adenosis, epithelial calcifications or papillary apocrine changes. These fibroadenomas are classified as complex and are a long-term risk factor for breast cancer. The complex fibroadenoma may be specific of fibroadenoma associated with carcinoma.

  15. Primary Osteosarcoma of the Breast Arising in an Intraductal Papilloma

    Directory of Open Access Journals (Sweden)

    Khalefa Ali Alghofaily

    2017-01-01

    Full Text Available Introduction. Primary osteosarcoma of the breast is extremely rare, and an osteosarcoma arising from an intraductal papilloma is exceptional. Case Presentation. A 72-year-old Saudi Arabian woman presented with a solid, bone-containing breast mass that was diagnosed as primary osteosarcoma of the breast on biopsy. She had a history of untreated intraductal papilloma. Treatment was completed with a modified mastectomy after excluding extramammary metastases. However, she subsequently developed multiple recurrent lesions at the same site. Conclusion. Primary osteogenic sarcomas of the breast are very rare. Although the main treatment is resection the optimal management remains uncertain and prognosis is poor.

  16. Syphilitic gumma arising in association with foreign material.

    Science.gov (United States)

    Boyd, Alan S

    2016-11-01

    Until recently the number of patients with syphilis has been diminishing. Although that trend has reversed cases of tertiary syphilis are rare and often difficult to diagnose as a substantial number of patients will have a negative rapid plasma reagin. Histologically, cutaneous lesions in late stage syphilis exist in two forms, noduloulcerative and gummatous. Silver stains for spirochetes are almost invariably negative and, surprisingly, immunohistochemical stains are problematic as most lesions contain few, if any organisms. Presented here is a case of gummatous tertiary syphilis arising in association with foreign material deposited after a motor vehicle accident.

  17. Poorly differentiated carcinoma arising from adenolymphoma of the parotid gland

    Directory of Open Access Journals (Sweden)

    Ciulla Michele M

    2003-01-01

    Full Text Available Abstract Background There is only one previous case report of a poorly differentiated carcinoma arising from an adenolymphoma of the parotid gland (Warthin's tumour. The absence of clinical symptoms, and the aspecificity of the radiological pattern make the diagnosis very difficult. Case presentation We here report the case of a 73-year-old man with Warthin's tumour who was brought to our attention because of a swelling in the parotid region. Conclusions In this case with an atypical clinical presentation, the intra-operative examination of a frozen section of the parotid mass allowed us to diagnose the malignant tumour correctly and consequently undertake its radical excision.

  18. Spectral Distribution of Transport Operator Arising in Growing Cell Populations

    Directory of Open Access Journals (Sweden)

    Hongxing Wu

    2014-01-01

    Full Text Available Transport equation with partly smooth boundary conditions arising in growing cell populations is studied in Lp  (1

  19. Facial Cellulitis Arising from Dens Evaginatus: A Case Report

    Directory of Open Access Journals (Sweden)

    Chun-Ming Chen

    2005-07-01

    Full Text Available Dens evaginatus is a developmental anomaly that produces a tubercle on the occlusal surface of a tooth. It is found most frequently in the mandibular premolars. The occlusal tubercle easily causes occlusal interferences. Attrition or fracture of the tubercle can lead to pulpitis, pulp necrosis, periapical pathosis, and periapical infection. This case report illustrates the treatment of facial cellulitis arising from dens evaginatus with open apex. Calcium hydroxide was used for the apexification procedure. One year after canal obturation, radiography revealed no apical pathosis and the apical seal was evident.

  20. Squamous cell carcinoma arising in a multiple verrucous epidermal nevus*

    Science.gov (United States)

    Yarak, Samira; Machado, Taila Yuri Siqueira; Ogawa, Marilia Marufuji; Almeida, Mirian Luzia da Silva; Enokihara, Milvia Maria Simões e Silva; Porro, Adriana Maria

    2016-01-01

    Verrucous epidermal nevi are hamartomatous lesions of the epidermis that, unlike other epidermal nevi (such as sebaceous nevus or nevus comedonicus), are rarely associated with malignant neoplasms. The majority of squamous cell carcinoma develop in linear or multiple epidermal nevus and rarely in solitary epidermal nevus. In general, the prognosis is favorable. We report a case of well-differentiated invasive squamous cell carcinoma arising from a multiple verrucous epidermal nevus. Although there is no consensus on prophylactic removal of epidermal nevus, its removal and biopsy should be considered if changes occur. PMID:28300931

  1. Parabolic Perturbation of a Nonlinear Hyperbolic Problem Arising in Physiology

    Science.gov (United States)

    Colli, P.; Grasselli, M.

    We study a transport-diffusion initial value problem where the diffusion codlicient is "small" and the transport coefficient is a time function depending on the solution in a nonlinear and nonlocal way. We show the existence and the uniqueness of a weak solution of this problem. Moreover we discuss its asymptotic behaviour as the diffusion coefficient goes to zero, obtaining a well-posed first-order nonlinear hyperbolic problem. These problems arise from mathematical models of muscle contraction in the framework of the sliding filament theory.

  2. Solitary fibrous tumor arising in an intrathoracic goiter

    DEFF Research Database (Denmark)

    Larsen, Stine Rosenkilde; Godballe, Christian; Krogdahl, Annelise

    2010-01-01

    . CONCLUSION: The histological appearance and immunohistochemical reaction pattern of SFT is characteristic. The entity should be considered when dealing with a spindle cell lesion in the thyroid gland. All cases of this site of origin reported have had a benign clinical course. As only a small number of cases......BACKGROUND: Solitary fibrous tumor (SFT) is a rare spindle cell tumor most often found in the mediastinal pleura. Nineteen cases of SFT arising in the thyroid gland have been reported. We report a case of SFT of the thyroid gland with immunohistochemical and cytogenetic investigation. SUMMARY: A 58...

  3. Semigroups and their topologies arising from Green's left quasiorder

    Directory of Open Access Journals (Sweden)

    Bettina Richmond

    2008-10-01

    Full Text Available Given a semigroup (S, ·, Green’s left quasiorder on S is given by a ≤ b if a = u · b for some u ϵ S1. We determine which topological spaces with five or fewer elements arise as the specialization topology from Green’s left quasiorder for an appropriate semigroup structure on the set. In the process, we exhibit semigroup structures that yield general classes of finite topological spaces, as well as general classes of topological spaces which cannot be derived from semigroup structures via Green’s left quasiorder.

  4. Proteasome activity and subunit composition in endometrial hyperplasia and cancer

    Directory of Open Access Journals (Sweden)

    L. V. Spirina

    2011-01-01

    Full Text Available In endometrial hyperplasia the total proteasome activity was not changed however the 26S proteasome activity was increased in comparison with the normal tissues. In endometrial cancer the high total proteasome activity and activities of 26S and 20S proteasomes wer e revealed. The changes in proteasome activities were correlated with the decreased content of α1α2α3α5α6α7 proteasome subunits and increased con- tents of LMP2, LMP7 and PA28β proteasome subunits compared to that in nonaltered tissues. Low content of α1α2α3α5α6α7 proteasome subunits was revealed at the second stage of cancer patients in comparison with that at the first stage.

  5. Angiolymphoid hyperplasia with eosinophilia: Atypical appeareance in an older patient

    Directory of Open Access Journals (Sweden)

    Karabudak Ozlem

    2008-01-01

    Full Text Available We describe a 76-year-old man presenting with a chronic, non-healing ulcer of six-year duration on his left zygomatic area. The skin biopsy specimen taken from the lesion, showed increased vascular proliferation, edematous endothelial cells in the dermal blood vessels and perivascular eosinophilic/lymphocytic infiltration. The routine and specific blood tests were unremarkable. On the basis of these features, the patient was diagnosed as having angiolymphoid hyperplasia with eosinophilia (ALHE. We present the case because of its rarity in older people, atypical clinical appearance; and stress the consideration of ALHE in the differential diagnosis of chronic non-healing superficial ulcers confined to face and neck.

  6. Nonclassical congenital adrenal hyperplasia: targets of treatment and transition.

    Science.gov (United States)

    McCann-Crosby, Bonnie; Chen, Min-Jye; Lyons, Sarah K; Lin, Yuezhen; Axelrad, Marni; Dietrich, Jennifer E; Sutton, V Reid; Macias, Charles G; Gunn, Sheila; Karaviti, Lefkothea

    2014-12-01

    Nonclassical congenital adrenal hyperplasia (NCCAH) caused by 21-hydroxylase deficiency is a common autosomal recessive condition that can present with a wide range of hyperandrogenemic signs in childhood or adulthood. The management of children with NCCAH can be challenging, as no universally accepted guidelines have been established. Our goal was to evaluate the literature and develop an evidence-based guideline for the medical management of children and adolescents with NCCAH. We reviewed the published literature and used the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system when appropriate to grade the evidence and provide recommendations for the medical management of children and adolescents with NCCAH, appropriate transition practices from pediatric to adult endocrine care, and psychological issues that should be addressed in parents and patients with NCCAH. We offer recommendations, based on the available evidence, for the management of NCCAH at the different developmental stages from diagnosis through transition to adulthood.

  7. Benign prostate hyperplasia and stem cells: a new therapeutic opportunity.

    Science.gov (United States)

    Notara, Maria; Ahmed, Aamir

    2012-12-01

    Most men over 50 experience some lower urinary tract symptoms of nocturia, poor stream, urgency and frequency for urination, due to hyperplastic enlargement of the prostate (benign prostate hyperplasia, BPH). BPH is thought to be a disease with multiple aetiologies including hormone signalling, disruption of proliferation and apoptosis dynamics and chronic inflammation with changes in the morphology and phenotype of the prostate stroma. It has been proposed, recently, that stromal stem cells in prostate may be caused by the development of BPH. This review focuses on this putative role of stromal stem or stem-like cells in the development of BPH and assesses the potential of targeting the stem cells for the treatment of BPH.

  8. Orbital extension of supraorbital angiolymphoid hyperplasia with eosinophilia

    Directory of Open Access Journals (Sweden)

    Bangal SV

    2011-03-01

    Full Text Available Angiolymphoid hyperplasia with eosinophilia (ALHE is a rareclinicopathologic entity that shares both clinical andhistopathological features with Kimura disease. Although theywere once considered as different stages of the same disease,they are now known to represent separate entities. ALHE is acondition that causes swellings in the head and neck regionaffecting muscular arteries and is benign in nature.1 Orbitalinvolvement is unusual. Diagnosis of ALHE is frequentlyconfused with malignant tumour until biopsy is done.4 Wepresent here a young female with unilateral, painless andslowly progressive swelling on the inner and upper aspect ofher left orbit, who was diagnosed as a case of ALHE withorbital involvement on the basis of CT scan and excisionalbiopsy. Regular follow up was performed and no evidence ofrecurrence was found

  9. Mineralocorticoid Deficiency and Treatment in Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Peter C. Hindmarsh

    2010-01-01

    Full Text Available Approximately 75%–80% of patients with Congenital Adrenal Hyperplasia (CAH fail to synthesize sufficient mineralocorticoids to maintain salt and water balance. In most instances genotype can predict mineralocorticoid deficiency in CAH. Early recognition and replacement with 9α-fludrocortisone and salt supplements will prevent development of potentially lethal salt losing crises. In infancy a relative state of aldosterone resistance exists and replacement dose of 9α-fludrocortisone based on body surface area is higher during infancy compared to childhood and adults. Salt supplementation is generally not required after weaning is started. Regular monitoring of blood pressure and measurements of plasma electrolytes and renin are required to prevent complications of under or over dosage.

  10. The role of imaging in congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Teixeira, Sara Reis; Andrade, Marco Tulio Soares; Melo, Andrea Farias; Elias Junior, Jorge, E-mail: jejunior@fmrp.usp.br [Department of Internal Medicine, Division of Radiology, Clinical Hospital, Ribeirao Preto Medical School, University of Sao Paulo (FMRP-USP), Ribeirao Preto, SP (Brazil); Elias, Paula Condé Lamparelli [Department of Internal Medicine, Division of Endocrinology, Clinical Hospital, FMRP-USP, Ribeirao Preto, SP (Brazil)

    2014-10-15

    Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. (author)

  11. Management considerations for the adult with congenital adrenal hyperplasia.

    Science.gov (United States)

    Auchus, Richard J

    2015-06-15

    The congenital adrenal hyperplasias (CAH) are a group of genetic defects in cortisol biosynthesis, most commonly steroid 21-hydroxylase deficiency (21OHD). With the advent of cortisone therapy in the 1960s and newborn screening in the 1990s, most children with 21OHD now reach adulthood. The needs and concerns of adults with 21OHD overlap with those of children, but the focus and approach shift as these patients reach adulthood. Cohort studies suggest that adults with 21OHD experience significant health concerns such as infertility, obesity, short stature, neoplasia, and bone loss, as well as reduced quality of life. Nevertheless, the spectrum of health status and disease severity is broad, but only some of the reasons for these disparities are known. This review will summarize the current state of knowledge and suggested approaches to management adults with classic 21OHD, plus a few major considerations for adults with nonclassic 21OHD.

  12. Bone mineral status in children with congenital adrenal hyperplasia.

    Science.gov (United States)

    Fleischman, Amy; Ringelheim, Julie; Feldman, Henry A; Gordon, Catherine M

    2007-02-01

    Congenital adrenal hyperplasia (CAH) is caused by a deficiency in an adrenal enzyme resulting in alterations in cortisol and aldosterone production. Bone status is affected by chronic glucocorticoid therapy and excess androgen exposure in children with CAH. This cross-sectional study enrolled participants with 21-hydroxylase deficiency from a pediatric referral center. Bone mineral density in the participants was normal when compared to age, gender and ethnicity adjusted standards, with respect to chronological age or bone age. Lean body mass was positively correlated with bone mineral content (BMC), independent of fat mass (p bone status may be explained by the differential effects of glucocorticoids on growing bone, beneficial androgen effects, or other disease specific factors.

  13. Evolving Novel Chemical Entities for Management of Benign Prostatic Hyperplasia.

    Science.gov (United States)

    Gupta, Sonal; Gupta, Gopal; Sharma, V L

    2017-01-01

    Proliferation of the smooth muscle and epithelial cells within the prostatic transition zone in older men leads to benign prostatic hyperplasia (BPH), which is hallmarked by the troublesome lower urinary tract symptoms. The affair responsible for the initiation and promotion of disease is still unresolved, though alpha-blockers and 5α-reductase inhibitors are used as management options for relief from the dynamic and static components respectively. Combination therapy including both the alpha blocker and 5α-reductase inhibitor is emerging as inclusive parcel for treatment. However, selective androgen receptor modulators (SARM) and selective estrogen receptor modulators (SERM) are the other management resources, which are in the limelight. This review gives a glimpse of BPH and the various chemical entities which have been reported in literature till date for the condition since 2005. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  14. Economic issues and the management of benign prostatic hyperplasia.

    Science.gov (United States)

    Holtgrewe, H L

    1995-09-01

    Enormous financial resources are expended worldwide on the treatment of the urologic complications and symptoms induced by benign prostatic hyperplasia (BPH). Even for its surgical management, where the best data exist, current international accounting of these expenditures remains very poorly documented. On February 8, 1994, the Department of Health and Human Services of the US government released clinical guidelines for the diagnosis and management of BPH. Imaging of the upper urinary tract as a routine diagnostic procedure is not recommended in these guidelines unless a comorbidity indicating its need exists. Diagnostic cystoscopy to assist in the decision of the need to treat is not recommended. Adherence to these two principles along with adherence to the strategies of management presented in the guidelines and discussed herein has the potential of achieving profound financial savings without impairing quality of care worldwide.

  15. Connexin43 Inhibition Prevents Human Vein Grafts Intimal Hyperplasia

    Science.gov (United States)

    Longchamp, Alban; Allagnat, Florent; Alonso, Florian; Kuppler, Christopher; Dubuis, Céline; Ozaki, Charles-Keith; Mitchell, James R.; Berceli, Scott; Corpataux, Jean-Marc

    2015-01-01

    Venous bypass grafts often fail following arterial implantation due to excessive smooth muscle cells (VSMC) proliferation and consequent intimal hyperplasia (IH). Intercellular communication mediated by Connexins (Cx) regulates differentiation, growth and proliferation in various cell types. Microarray analysis of vein grafts in a model of bilateral rabbit jugular vein graft revealed Cx43 as an early upregulated gene. Additional experiments conducted using an ex-vivo human saphenous veins perfusion system (EVPS) confirmed that Cx43 was rapidly increased in human veins subjected ex-vivo to arterial hemodynamics. Cx43 knock-down by RNA interference, or adenoviral-mediated overexpression, respectively inhibited or stimulated the proliferation of primary human VSMC in vitro. Furthermore, Cx blockade with carbenoxolone or the specific Cx43 inhibitory peptide 43gap26 prevented the burst in myointimal proliferation and IH formation in human saphenous veins. Our data demonstrated that Cx43 controls proliferation and the formation of IH after arterial engraftment. PMID:26398895

  16. Current clinical management strategies for benign prostatic hyperplasia

    Institute of Scientific and Technical Information of China (English)

    ZHANG Xiang-hua

    2008-01-01

    @@ This article summarizes the major new findings on clinical management for benign prostatic hyperplasia (BPH) that were presented at the annual meeting of the American Urological Association (AUA) in May 2008.The management of symptomatic BPH has been changed significantly over the last decade in response to the availability of new treatment options.Prior to the 1980s,open prostatectomy was the only widely accepted intervention for BPH.Since then,the advent of new medical therapies for BPH and the introduction of a range of minimally invasive therapies have provided for men with lower urinary tract symptoms (LUTS) secondary to BPH.1 In this year's AUA meeting,several new findings were reported in the filed of BPH which involved epidemiology,clinical progression,drug therapy and new technologies in surgical therapy of BPH.

  17. T-cell-predominant lymphoid hyperplasia in a tattoo*

    Science.gov (United States)

    Souza, Erica Sales; Rocha, Bruno de Oliveira; Batista, Everton da Silva; de Oliveira, Rodrigo Ferreira; Farre, Lourdes; Bittencourt, Achilea Lisboa

    2014-01-01

    Cutaneous lymphoid hyperplasia (CLH) can be idiopathic or secondary to external stimuli, and is considered rare in tattoos. The infiltrate can be predominantly of B or T-cells, the latter being seldom reported in tattoos. We present a case of a predominantly T CLH, secondary to the black pigment of tattooing in a 35-year-old patient, with a dense infiltrate of small, medium and scarce large T-cells. Analysis of the rearrangement of T-cells receptor revealed a polyclonal proliferation. Since the infiltrate of CLH can simulate a T lymphoma, it is important to show that lesions from tattoos can have a predominance of T-cells. PMID:25387518

  18. Effects of pulsed electromagnetic fields on benign prostate hyperplasia.

    Science.gov (United States)

    Giannakopoulos, Xenophon K; Giotis, Christos; Karkabounas, Spyridon Ch; Verginadis, Ioannis I; Simos, Yannis V; Peschos, Dimitrios; Evangelou, Angelos M

    2011-12-01

    Benign prostate hyperplasia (BPH) has been treated with various types of electromagnetic radiation methods such as transurethral needle ablation (TUNA), interstitial laser therapy (ILC), holmium laser resection (HoLRP). In the present study, the effects of a noninvasive method based on the exposure of patients with BPH to a pulsative EM Field at radiofrequencies have been investigated. Twenty patients with BPH, aging 68-78 years old (y.o), were enrolled in the study. Patients were randomly divided into two groups: the treatment group (10 patients, 74.0 ± 5.7 y.o) treated with the α-blocker Alfusosin, 10 mg/24 h for at least 4 weeks, and the electromagnetic group (10 patients, 73.7 ± 6.3 y.o) exposed for 2 weeks in a very short wave duration, pulsed electromagnetic field at radiofrequencies generated by an ion magnetic inductor, for 30 min daily, 5 consecutive days per week. Patients of both groups were evaluated before and after drug and EMF treatment by values of total PSA and prostatic PSA fraction, acid phosphate, U/S estimation of prostate volume and urine residue, urodynamic estimation of urine flow rate, and International Prostate Symptom Score (IPSS). There was a statistically significant decrease before and after treatment of IPSS (P < 0.02), U/S prostate volume (P < 0.05), and urine residue (P < 0.05), as well as of mean urine flow rate (P < 0.05) in patients of the electromagnetic group, in contrast to the treatment group who had only improved IPSS (P < 0.05). There was also a significant improvement in clinical symptoms in patients of the electromagnetic group. Follow-up of the patients of this group for one year revealed that results obtained by EMFs treatment are still remaining. Pulsed electromagnetic field at radiofrequencies may benefit patients with benign prostate hyperplasia treated by a non-invasive method.

  19. The role of hyperplasia on the increase of skeletal muscle

    Directory of Open Access Journals (Sweden)

    Victor Hugo Maciel Meloni

    2005-06-01

    Full Text Available Skeletal muscle hypertrophy is resulted from the individual increase of the fiber cross-sectional area. This adaptative phenomenon is normally observed in the muscle tissue submitted to a regimen of physical exercises, like strength training. The degree of muscular hypertrophy is directly related to the type of exercise and its intensity. Strength training normally produces a hypertrophy of greater magnitude when compared to other types of physical exercise. However, it is possible that there is another adaptive mechanism contributing for increasing skeletal muscle size. This mechanism is called hyperplasia, and can be defined as an increase in the cells, or fibers, number in the muscle. This brief review aims to verify the role of hyperplasia in the increase of skeletal muscle size. RESUMO A hipertrofia do músculo esquelético é resultado do aumento individual da área transversal da fibra. Este fenômeno adaptativo é comumente observado no tecido muscular submetido à um regime de exercícios físicos, como o treinamento de força. O grau de hipertrofia muscular está diretamente relacionado ao tipo de exercício e sua intensidade. O treinamento de força normalmente produz uma hipertrofia de maior magnitude, quando comparada aos outros tipos de exercício físico. Todavia, é provável que haja outro mecanismo adaptativo contribuindo para a hipertrofia do músculo esquelético. Este mecanismo chama-se hiperplasia, e pode ser traduzida por um aumento no número de células, ou fibras musculares em relação ao número original. Este breve resumo tem por objetivo verificar qual é o papel da hiperplasia na hipertrofia do músculo esquelético.

  20. Hypertrophy and/or Hyperplasia: Dynamics of Adipose Tissue Growth.

    Science.gov (United States)

    Jo, Junghyo; Gavrilova, Oksana; Pack, Stephanie; Jou, William; Mullen, Shawn; Sumner, Anne E; Cushman, Samuel W; Periwal, Vipul

    2009-03-01

    Adipose tissue grows by two mechanisms: hyperplasia (cell number increase) and hypertrophy (cell size increase). Genetics and diet affect the relative contributions of these two mechanisms to the growth of adipose tissue in obesity. In this study, the size distributions of epididymal adipose cells from two mouse strains, obesity-resistant FVB/N and obesity-prone C57BL/6, were measured after 2, 4, and 12 weeks under regular and high-fat feeding conditions. The total cell number in the epididymal fat pad was estimated from the fat pad mass and the normalized cell-size distribution. The cell number and volume-weighted mean cell size increase as a function of fat pad mass. To address adipose tissue growth precisely, we developed a mathematical model describing the evolution of the adipose cell-size distributions as a function of the increasing fat pad mass, instead of the increasing chronological time. Our model describes the recruitment of new adipose cells and their subsequent development in different strains, and with different diet regimens, with common mechanisms, but with diet- and genetics-dependent model parameters. Compared to the FVB/N strain, the C57BL/6 strain has greater recruitment of small adipose cells. Hyperplasia is enhanced by high-fat diet in a strain-dependent way, suggesting a synergistic interaction between genetics and diet. Moreover, high-fat feeding increases the rate of adipose cell size growth, independent of strain, reflecting the increase in calories requiring storage. Additionally, high-fat diet leads to a dramatic spreading of the size distribution of adipose cells in both strains; this implies an increase in size fluctuations of adipose cells through lipid turnover.